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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 123
2010 91
2011 82
2012 101
2013 111
2014 121
2015 131
2016 135
2017 119
2018 101
2019 92
2020 110
2021 189
2022 147
2023 116
2024 154
2025 165
2026 122

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2,210 results

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Page 1
Combining multiplexed functional data to improve variant classification.
Calhoun JD, Dawood M, Rowlands CF, Fayer S, Radford EJ, McEwen AE, Tejura M, Turnbull C, Spurdle AB, Starita LM, Jagannathan S. Calhoun JD, et al. Genome Med. 2026 Jul 11. doi: 10.1186/s13073-026-01715-w. Online ahead of print. Genome Med. 2026. PMID: 42432739 Free article.
Multi-omics profiles of sex hormone-binding globulin are associated with subclinical atherosclerosis in men with HIV.
Wang Y, Xue X, Usyk M, Sharma A, Anastos K, Post WS, Hodis HN, Wang Z, Witt MD, Rinaldo CR, Brown TT, Palella FJ, Gange S, Kuniholm MH, Sha BE, Caron P, Gerszten RE, Clish CB, Guillemette C, Burk RD, Kaplan RC, Qi Q, Hanna DB, Peters BA. Wang Y, et al. Genome Med. 2026 Jul 4. doi: 10.1186/s13073-026-01709-8. Online ahead of print. Genome Med. 2026. PMID: 42400043 Free article.
Multi-modal data integration reveals functionally credible predictive biomarkers in ovarian cancer.
Muranen TA, Hainari A, Afenteva D, Senkowski W, Oikkonen J, Dreo J, Driva K, Holmström S, Isoviita VM, Lahtinen A, Lavikka K, Li Y, Lovino M, Maarala I, Marchi G, Miccolis F, Micoli G, Najm M, Ostwaldt AC, Rodriguez-Mier P, Söderlund J, Hietanen S, Virtanen A, Saez-Rodriguez J, Ficarra E, Schwikowski B, Alanne E, Wennerberg K, Hautaniemi S, Hynninen J. Muranen TA, et al. Genome Med. 2026 Jul 3. doi: 10.1186/s13073-026-01706-x. Online ahead of print. Genome Med. 2026. PMID: 42400003 Free article.
Human cancer genomes harbor the mutational signature of tobacco-specific nitrosamines NNN and NNK.
Korenjak M, Temiz NA, Keita S, Chavanel B, Renard C, Sirand C, Cahais V, Mayel T, Vevang KR, Jacobs FC, Guo J, Smith WE, Oram MK, Tăbăran FA, Ahlat O, Cornax I, O'Sullivan MG, Das S, Nandi SP, Cheng Y, Alexandrov LB, Balbo S, Hecht SS, Senkin S, Virard F, Peterson LA, Zavadil J. Korenjak M, et al. Genome Med. 2026 Jul 2. doi: 10.1186/s13073-026-01685-z. Online ahead of print. Genome Med. 2026. PMID: 42393796 Free article.
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.
Liang Y, Ormazabal-Toledo R, Srinivasan H, Malci A, Acevedo W, Thomas U, Cohen JS, Rahner N, Luppe J, Vera G, Lecoquierre F, Kroin E, Angle B, Cui H, Sacoto MJG, de Vries BBA, Pfundt R, Prinzing G, Wiltrout K, Begun Y, Pereira EM, Afenjar A, Nava C, Platzer K, Montag D, Herrera-Molina R. Liang Y, et al. Genome Med. 2026 Jul 1;18(1):93. doi: 10.1186/s13073-026-01699-7. Genome Med. 2026. PMID: 42387534 Free PMC article.
ESR1 mutations and CDK4/6 inhibitor choice shape clonal selection and adaptive cell states during acquired resistance.
Guarducci C, Abravanel D, Russo D, Prasad K, Fu J, Nagy Z, Rao V, Nardone A, Kuang Y, Feit A, Ma W, Feit GC, Hermida-Prado F, Heraud C, Munoz Gomez M, Garcia Cortes DE, Kurnia P, Gomez Tejeda Zanudo J, Li R, Qiu X, Cristea S, Feiglin A, Cheng YC, Lin NU, Tolaney SM, Malorni L, Sicinski P, Polyak K, Paweletz C, Long H, Stewart C, Michor F, Getz G, Brown M, Jeselsohn R. Guarducci C, et al. Genome Med. 2026 Jun 27. doi: 10.1186/s13073-026-01690-2. Online ahead of print. Genome Med. 2026. PMID: 42365380 Free article.
circVDJ-seq for T cell clonotype detection in single-cell and spatial multi-omics.
Plumbom I, Obermayer B, Raspe R, Pascual-Reguant A, Theurillat I, Pentimalli TM, Hsieh YH, Gil M, Dietrich C, Seeger-Zografakis M, Quedenau C, Wilde J, Braeuning C, Fischer C, Schuelke M, Seitz V, Ludwig LS, Eggert A, Rajewsky N, Borodina T, Beule D, Altmueller J, Radbruch H, Hauser AE, Conrad T. Plumbom I, et al. Genome Med. 2026 Jun 10;18(1):84. doi: 10.1186/s13073-026-01691-1. Genome Med. 2026. PMID: 42271498 Free PMC article.
Genome-wide meta-analysis across East Asian and European populations provides insights into the molecular basis of lung cancer.
Zhu M, Zhang C, Han Y, Jin C, Miao S, Zhang J, Gong L, Mou Y, Ji C, Fu Y, Zhang E, Yu C, Sun D, Jiang Y, Chen J, Yang L, Chen Y, Du H, Walters R, Millwood I, Dai J, Chen Z, Hu Z, Lv J, Jin G, Amos CI, Shen H, Li L, Ma H. Zhu M, et al. Genome Med. 2026 May 18;18(1):101. doi: 10.1186/s13073-026-01666-2. Genome Med. 2026. PMID: 42152146 Free PMC article.
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.
Valtorta B, Polackova Z, Maroofian R, Herold A, Karagoz I, Zaki MS, Bronisova D, Liao M, Zamani M, Scardamaglia A, Collomb N, Lopez-Jimenez L, Barrero MJ, Schröter J, Syrbe S, Vallanger MH, Houge SD, Alanay Y, Akgun-Dogan O, Vogt J, Muriello M, Hendriks YMC, Afenjar A, Damseh N, Kaiyrzhanov R, Niceta M, Tartaglia M, Kurian MA, Di Donato N, Yoon G, Houlden H, Samarut É, Hanzlikova H. Valtorta B, et al. Genome Med. 2026 May 12;18(1):95. doi: 10.1186/s13073-026-01667-1. Genome Med. 2026. PMID: 42116163 Free PMC article.
Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration.
Hall JC, Krishna Sudhakar K, Daniszewski M, Senabouth A, Abbott CJ, Liang HH, Kumar H, Lidgerwood GE, Mirzaei M, Ma JY, Atkeson T, Hirokawa Y, Nandrot EF, Barnett A, Cazevieille C, Manes G, Mountford S, Thompson P, Fletcher EL, Wu Z, Bahlo M, Ansell BRE, Paull D, Hewitt AW, Guymer RH, Powell JE, Pébay A. Hall JC, et al. Genome Med. 2026 May 10;18(1):54. doi: 10.1186/s13073-026-01658-2. Genome Med. 2026. PMID: 42106786 Free PMC article.
The contribution of rare germline variants to the immune landscape of breast cancer.
Rojas-Rodríguez F, Canisius S, Keeman R, Bernstein AJ, Hurson AN, Ahearn TU, Andrulis IL, Antoniou AC, Behrens S, Białkowska K, Blows FM, Bolla MK, Camp NJ, Cessna MH, Chang-Claude J, Chanock SJ, Dennis J, Devilee P, Dunning AM, Gronwald J, Hamann U, Hollestelle A, Hooning MJ, Horlings HM, Jager A, Jakubowska A, Jones B, Kaaks R, Kok M, Lissowska J, Lubiński J, Manoochehri M, Miller JL, Muhammad N, Mulligan AM, Obi N, Rashid MU, Sinn HP, van Deurzen CHM, Wang Q, Williams JA, Yang XR, Easton DF, Ali HR, García-Closas M, Pharoah PDP, Abubakar M, Schmidt MK. Rojas-Rodríguez F, et al. Genome Med. 2026 May 9;18(1):94. doi: 10.1186/s13073-026-01662-6. Genome Med. 2026. PMID: 42104457 Free PMC article.
African ancestry and risk variants associated with triple-negative breast cancer susceptibility in African American women.
Jia G, Liu L, Ping J, Fiorica PN, Guo X, Tao R, Li B, Gu J, John EM, Olopade OI, Press MF, Brewster AM, Olshan AF, Zirpoli G, Butler EN, Huang M, Huo D, Palmer JR, Haiman CA, Ambrosone CB, Troester MA, Long J, Yao S, Zheng W. Jia G, et al. Genome Med. 2026 May 7;18(1):92. doi: 10.1186/s13073-026-01665-3. Genome Med. 2026. PMID: 42098873 Free PMC article.
Twelve years of genomic surveillance of vancomycin-resistant Enterococcus faecium: emergence of linear vanA and bacteriocin-carrying plasmids challenging infection control.
Almeida-Santos AC, Tedim AP, Duarte B, Pereira AP, Silva LM, Teixeira J, Castro AP, Roer L, Hammerum AM, Hasman H, Coque TM, Novais C, Freitas AR, Peixe L; ESCMID Study Group for Epidemiological Markers (ESGEM), and ESCMID Study Group on Mobile Elements and Plasmids (ESGMAP). Almeida-Santos AC, et al. Genome Med. 2026 May 5;18(1):56. doi: 10.1186/s13073-026-01656-4. Genome Med. 2026. PMID: 42087222 Free PMC article.
ERG is a regulator of dynamic and reversible endothelial plasticity.
Schulz K, Botts SR, Ellis K, Scipione CA, Khyzha N, Ho C, Kumaragurubaran R, Yuki KE, Wythe JD, Miller CL, Wilson MD, Howe KL, Fish JE. Schulz K, et al. Genome Med. 2026 May 1;18(1):53. doi: 10.1186/s13073-026-01638-6. Genome Med. 2026. PMID: 42067854 Free PMC article.
Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.
Xiao B, Liu H, Sun Y, Su X; Chinese Medical Doctor Association of Genetics Counselling Board; Xie X, Xu Z, Ren F, Peng Y, Hui L, Xu L, Zhang C, Duan J, Zhang J, Li J, Xue S, Liao S, Liu L, Zhao Z, Yuan D, Qiu J, Zhang F, Huang Y, Ha Y, Yu L, Tang K, Li X, Pan W, Shu J, Zhu J, Meng L, Xu C, Mao A, Yan N, Yu Y. Xiao B, et al. Genome Med. 2026 Apr 24;18(1):85. doi: 10.1186/s13073-026-01628-8. Genome Med. 2026. PMID: 42026640 Free PMC article.
Empirical evaluation of analytic validity of polygenic scores.
Lin T, Zeng J, Gordon SD, Wallace L, Ziser L, Shah S, Pain O, Nolte IM, Snieder H; Lifelines Cohort Study; James PA, Martin NG, Visscher PM, Lee E, Yengo L, Henders AK, Wray NR. Lin T, et al. Genome Med. 2026 Apr 23;18(1):81. doi: 10.1186/s13073-026-01654-6. Genome Med. 2026. PMID: 42026678 Free PMC article.
Developing a germline prostate cancer risk test incorporating rare and common variants, to inform clinical decisions: a route to precision oncology.
Wakerell S, Karlsson Q, Merson S, Rageevakumar R, Saunders E, Burns D, Brook MN, Dadaev T, Page EC, Thomas S, Taylor N, Pope J, Cousins S, McHugh J, Jones AB, McVeigh TP, Bancroft EK, Eeles RA, Kote-Jarai Z. Wakerell S, et al. Genome Med. 2026 Apr 18;18(1):78. doi: 10.1186/s13073-026-01640-y. Genome Med. 2026. PMID: 42001130 Free PMC article.
Maternal-prenatal gut microbiome-systemic metabolome perturbations and TH2-skewed immunity link to offspring gut microbiome disruption and atopic dermatitis susceptibility.
Ng DZW, Yap GC, Tay CJX, Huang CH, Zhao S, Low A, Tham EH, Loo EXL, Shek LP, Goh A, Chong KW, Goh SH, Cheng ZR, Van Bever HPS, Teoh OH, Lee YS, Yap F, Tan KH, Chong YS, Chan SY, Eriksson JG, Godfrey KM, Lay C, Knol J, Schuster SC, Lai JS, Chong MF, Lee JWJ, Lee BW, Chan ECY, Ta LDH. Ng DZW, et al. Genome Med. 2026 Apr 17;18(1):72. doi: 10.1186/s13073-026-01655-5. Genome Med. 2026. PMID: 41998770 Free PMC article.
Spatial transcriptomics reveals a molecular tumor budding signature in head and neck cancer.
Ourailidis I, Ball M, Vogel V, He M, Wang H, Kim SB, Böning S, Wollenberg B, Wolff KD, Steiger K, Mogler C, Duensing A, Duensing S, Schirmacher P, Stenzinger A, Gires O, Kazdal D, Kirchner M, Stögbauer F, Boxberg M, Budczies J. Ourailidis I, et al. Genome Med. 2026 Apr 15;18(1):43. doi: 10.1186/s13073-026-01612-2. Genome Med. 2026. PMID: 41987303 Free PMC article.
Co-occurrence of transcriptionally distinct persister cell states underpins neoadjuvant therapy resistance in triple‑negative breast cancer.
Zhang Y, Moughari FA, Mavrommati I, Doleschall NJ, Moore K, Muirhead G, Srinivasan RR, Gong P, Lei JT, Fleming A, Khoo HM, Guppy N, Elshtein G, Inayatullah M, Tiwari VK, Dobrolecki LE, Lewis MT, Haider S, Natrajan R. Zhang Y, et al. Genome Med. 2026 Apr 9;18(1):65. doi: 10.1186/s13073-026-01643-9. Genome Med. 2026. PMID: 41957609 Free PMC article.
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.
Santini A, Tognon A, Richard AC, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva JM, Ballesta-Martinez MJ, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Le Guillou X, Le Tanno P, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Paulet A, Yeung A, Levy J, Ruscitti F, Pias-Peleteiro L, Rio M, Courtin T, Abdallah HH, Ducreux S, Laloy JS, Rollier P, Guerrot AM, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Lecoquierre F, Nicolas G, Coussement A, Collet C, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. Santini A, et al. Genome Med. 2026 Apr 8;18(1):39. doi: 10.1186/s13073-026-01639-5. Genome Med. 2026. PMID: 41952182 Free PMC article.
Somatic copy number alterations profiling in non-small cell lung cancer and their correlation with clinical efficacy in first-line treatment.
Priano I, Amat R, Carbonell C, Arbusà-Roca A, Iranzo P, Pardo N, Soleda M, Romero-Sola G, Sinigaglia B, Polo-Alonso S, Callejo A, Valdivia A, Rocha P, Hernandez-Losa J, Sese M, Mirallas O, Masfarré L, Cedrés S, Martinez-Marti A, Caro-Consuegra R, Felip E. Priano I, et al. Genome Med. 2026 Apr 1;18(1):60. doi: 10.1186/s13073-026-01637-7. Genome Med. 2026. PMID: 41918135 Free PMC article.
Spatial multi-omics characterization of neuroblastoma reveals ferroptosis-associated metabolic features in high-risk tumors.
Tu C, Tan CW, Monkman J, Almeida AC, Antonio-Carreon G, Omer N, Hull G, Chung K, Mehdi AM, Salerno A, Vittorio O, Mayer A, Machado-Souza C, Jayabalan N, Toh YC, Hon HN, de Almeida Brehm Pinhatti F, Elifio-Esposito S, Nicholls W, de Noronha L, Kulasinghe A, Souza-Fonseca-Guimaraes F. Tu C, et al. Genome Med. 2026 Mar 31;18(1):35. doi: 10.1186/s13073-026-01622-0. Genome Med. 2026. PMID: 41918107 Free PMC article.
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.
Lindstrand A, Lagerstedt-Robinson K, Jemt A, Kvarnung M, Ygberg S, Vonlanthen S, Oscarson M, Nilsson D, Lesko N, Mantero AS, Anderlid BM, Arnell H, Arthur C, Bajalica-Lagercrantz S, Barbaro M, Bergman P, Björck E, Picard OB, Bruhn H, Carlsten J, Correia SP, De Geer K, Delgado Vega AM, Ehn E, Eisfeldt J, Ek M, Elvers I, Engvall M, Freyer C, Frisk S, Graff C, Grigelioniené G, Gustafsson P, Hammarsjö A, Helgadottir HT, Hellström Pigg M, Henry OJ, Hägglund M, Iwarsson E, Janvid V, Soller MJ, Sundin L, Kuchinskaya E, Kämpe A, Leinfelt A, Liedén A, Lindelöf H, Lyander A, Malmgren H, Mannila M, Marits P, Naess K, Neethiraj R, Nyren K, Pappas C, Paucar M, Pekkola Pacheco N, Peña Perez L, Pettersson M, Pruisscher P, Rasi C, Renevey A, Rössner S, Sahlin E, Stenund E, Stödberg T, Sundin M, Svärd K, Tesi B, Tham E, Thonberg H, Töhönen V, Ueberschär M, Wallander K, Westenius E, Winberg J, Winblad N, Wincent J, Winerdal M, Wredenberg A, Zetterlund A, Zetterström RH, Öfverholm I, Nordgren A, Stranneheim H, Wirta V, Wedell A. Lindstrand A, et al. Genome Med. 2026 Mar 30;18(1):30. doi: 10.1186/s13073-026-01611-3. Genome Med. 2026. PMID: 41913253 Free PMC article.
Type 2 diabetes risk alleles in peptidyl-glycine alpha-amidating monooxygenase influence GLP-1 levels and response to GLP-1 receptor agonists.
Umapathysivam MM, Araldi E, Hastoy B, Dawed AY, Vatandaslar H, Mayrhofer JE, Lindquist P, Silva PN, Goga A, Trüllinger GO, Godbersen S, Sengupta S, Kaufmann A, Thomsen SK, Hartmann B, Chen YC, Jonsson AE, Kabakci H, Thaman S, Grarup N, Have CT, Pallo LP, Faerch K, Gjesing AP, Nawaz S, Cheeseman J, Neville MJ, Pedersen O, Walker M, Sun H, Jennison C, Hattersley AT, Rehfeld JF, Holman RR, Verchere BC, Hansen T, Karpe F, Holst JJ, Rosenkilde MM, Jones AG, Ristow M, McCarthy MI, Pearson ER, Stoffel M, Gloyn AL. Umapathysivam MM, et al. Genome Med. 2026 Mar 29;18(1):40. doi: 10.1186/s13073-026-01630-0. Genome Med. 2026. PMID: 41906117 Free PMC article.
Lessons from single cell omics: admixed American ancestry and sex confer cardiometabolic disease risk in Mexicans.
Kar A, Lee SHT, Alvarez M, Rajkumar S, Das SS, Ochoa-Guzmán A, Muñoz-Hernandez LL, Guillen-Quintero DM, Herrera-Hernandez M, Cruz-Bautista I, Heinonen S, Saarinen T, Juuti A, Laakso M, Pietiläinen KH, Balliu B, Aguilar-Salinas C, Tusié-Luna MT, Pajukanta P. Kar A, et al. Genome Med. 2026 Mar 28;18(1):57. doi: 10.1186/s13073-026-01633-x. Genome Med. 2026. PMID: 41896987 Free PMC article.
COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.
Favier A, Chounta S, Garcia A, Jabot-Hanin F, Chen X, Garcelon N, Burgun A, Higueras M, Guilloux A, Benmerah A, Martin Y, Billot K, Rozet JM, Perrault I, Cormier-Daire V, Huber C, Zaidan M, Attie-Bitach T, Saunier S, Rausell A. Favier A, et al. Genome Med. 2026 Mar 24;18(1):52. doi: 10.1186/s13073-026-01619-9. Genome Med. 2026. PMID: 41877242 Free PMC article.
Multi-omics reveals key molecular and cellular features of advanced small cell lung cancers associated with distinct therapeutic opportunities.
Nones K, Lakis V, Dalley AJ, Ryan K, Chittoory H, Ferguson K, Fitzgerald K, Newell F, Koufariotis LT, Bashirzadeh F, Son JH, Singh M, Nandakumar L, Fairbairn D, Cummings M, Steinfort D, Christie JJ, Gibney M, Williamson JP, Pattison A, McIntosh L, Pahoff C, Nguyen PT, Solujic J, Brown M, Twaddell S, Arnold D, Grainge C, Gune S, Holmes O, Leonard C, Wood S, Pearson JV, Lakhani SR, Simpson PT, Waddell N, Fielding D. Nones K, et al. Genome Med. 2026 Mar 17;18(1):47. doi: 10.1186/s13073-026-01624-y. Genome Med. 2026. PMID: 41845530 Free PMC article.
Multifocal cohort analysis unveils cell types associated with regional lymph node seeding in prostate cancer.
de Schaetzen van Brienen L, Jung T, Larmuseau M, Van der Eecken K, Van Hecke M, Haerinck J, De Coninck J, Vanwelkenhuyzen J, Lumen N, De Laere B, De Witte N, Miclotte G, Verbeke S, Berx G, Van Dorpe J, Ost P, Marchal K. de Schaetzen van Brienen L, et al. Genome Med. 2026 Mar 5;18(1):41. doi: 10.1186/s13073-026-01616-y. Genome Med. 2026. PMID: 41787470 Free PMC article.
A comprehensive framework for the interpretation of TTN missense variants.
Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen CT, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B; T. T. N. study group; Gautel M, Savarese M. Di Feo MF, et al. Genome Med. 2026 Feb 26;18(1):32. doi: 10.1186/s13073-026-01605-1. Genome Med. 2026. PMID: 41749372 Free PMC article.
A novel spliceosomopathy caused by de novo SF3B3 variants.
Musante L, Janos P, Pianigiani G, Cappelli S, Longo A, Alves C, Schwaibold EM, Wagner M, Costain G, Fridriksdottir R, Stefansson K, Sulem P, Lichtenbelt KD, van Binsbergen E, van Jaarsveld RH, Brusco A, Pavinato L, Biamino E, Spano A, Hildebrandt CC, Chan YM, Groopman E, Berkenstadt M, Koboldt D, Williamson R, Brunner HG, Vissers LE, Torring PM, Hao Q, Gelb BD, Goldmuntz E, Reed K, Bedoukian EC, Vecchio D, Salzano E, Piccione M, Zanus C, Mio C, Eichler EE, Wang T, Patterson WG, Butler KM, Piotrowski M, Mercier S, Cogné B, Wentzensen IM, Buratti E, Magistrato A, Faletra F. Musante L, et al. Genome Med. 2026 Feb 19;18(1):34. doi: 10.1186/s13073-026-01610-4. Genome Med. 2026. PMID: 41709284 Free PMC article.
Inference of SARS-CoV-2 exposure biomarkers using large-scale T-cell repertoire profiling.
Vlasova EK, Nekrasova AI, Komkov AY, Izraelson M, Snigir EA, Mitrofanov SI, Yudin VS, Makarov VV, Keskinov AA, Korneeva D, Pivnyuk A, Shelyakin PV, Mamedov IZ, Rebrikov DV, Yudin SM, Skvortsova VI, Chudakov DM, Britanova OV, Shugay M. Vlasova EK, et al. Genome Med. 2026 Feb 12;18(1):20. doi: 10.1186/s13073-025-01589-4. Genome Med. 2026. PMID: 41680899 Free PMC article.
Multi-centered T cell repertoire profiling identifies alterations in the immune repertoire of individuals with inflammatory bowel disease across different disease stages.
Mahdy AKH, ElAbd H, Kokubun ÉE, Kriukova V, Pesesky M, May DH, Olbjørn C, Perminow G, Bengtson MB, Ricanek P, Andersen S, Detlie TE, Kristensen VA, Moum B, Vatn MH, Jahnsen J, Bokemeyer B, Hov JR, Halfvarson J, Schreiber S, Howie B, Robins HS, Høivik ML, Franke A; IBSEN-III study group. Mahdy AKH, et al. Genome Med. 2026 Jan 9;18(1):3. doi: 10.1186/s13073-025-01575-w. Genome Med. 2026. PMID: 41514338 Free PMC article.
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Dombrowsky G, van der Laan L, Silva A, Breckpot J, Audain E, Wilsdon A, Levy MA, Vos N, Mannens M, Wang J, Jain A, Lesurf R, Winlaw D, Bezzina CR, Thomas MA, Caliebe A, Klaassen S, Berger F, Dittrich S, Stiller B, Abdul-Khaliq H, Dähnert I, Bu'Lock F, Loughna S, Brook JD, Mital S, Russell RB, Pickardt T, Bauer U, Kramer HH, Uebing A, Henneman P, Sadikovic B, Postma A, Hitz MP. Dombrowsky G, et al. Genome Med. 2026 Jan 7;18(1):2. doi: 10.1186/s13073-025-01587-6. Genome Med. 2026. PMID: 41501857 Free PMC article.
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families.
Du H, Lun MY, Gagarina L, Bengtsson JD, Grochowski CM, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Lindstrand A, Posey JE, Gibbs RA, Liu P, Lupski JR, Carvalho CMB. Du H, et al. Genome Med. 2025 Dec 31;18(1):16. doi: 10.1186/s13073-025-01593-8. Genome Med. 2025. PMID: 41470026 Free PMC article.
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D, Zhu M, Liang Q, Qiang R, Yu L, Xu S, Li M, Song J, Zhou Y, He X, Huang Y, Jin H, Tan J, Liu H, Xia A, Liu Y, Liu P, Li Z, Wang R, Wang D, Zhang R, Pu Q, Zhou J, Xu R, Wang X, Tan M, Chen D, Wu C, Cui D, Mao A, Zhou W, Qiu W, Wu L. Liang D, et al. Genome Med. 2025 Dec 30;18(1):15. doi: 10.1186/s13073-025-01594-7. Genome Med. 2025. PMID: 41469707 Free PMC article.
Genetic liability to psoriasis predicts severe disease outcomes.
Saklatvala JR, Lessard S, Teder-Laving M, Thomas LF, Ramessur R, Zierer J, Åsvold BO, Barton A, Baudry D, Bowes J, Brumpton B, Bruno S, Chandran V, Chatelain C, de Rinaldis E, Elder JT, Ellinghaus D, Foerster J, Franke A, Gladman DD, Gulliver W, Hüffmeier U, Huilaja L, Hveem K, Khader S, Kingo K, Klinger K, Kolbinger F, Kõks S, Liao W, Nair RP, Nititham J, Rahman P, Reis A, Sagoo MK, Stuart PE, Tasanen K, Traks T, Tsoi LC, Uebe S, Watts K; BSTOP study group; Barker JN, Mahil SK, Langan SM; FinnGen; Estonian Biobank research team; Brown SJ, Løset M, Paternoster L, Dand N, Smith CH, Simpson MA. Saklatvala JR, et al. Genome Med. 2025 Dec 17;18(1):14. doi: 10.1186/s13073-025-01561-2. Genome Med. 2025. PMID: 41408349 Free PMC article.
Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.
Blackburn NB, McComish BJ, Motyer A, Slimmer JC, Leslie SJ, Broadley SA, Jokubaitis VG, Van Der Walt A, Kermode AG, Lechner-Scott J, Parnell GP, Fabis-Pedrini MJ, Scott RJ, Jackson S, Maltby VE, Charlesworth JC, Burdon KP, Taylor BV, Kilpatrick TJ, Rubio JP. Blackburn NB, et al. Genome Med. 2025 Dec 10;17(1):149. doi: 10.1186/s13073-025-01582-x. Genome Med. 2025. PMID: 41372986 Free PMC article.
Single-cell transcriptome analysis defines novel molecular subtypes and reveals therapeutic implications of T/myeloid mixed-phenotype acute leukemia.
Huang B, Liu W, Du Y, Liu P, Lu Z, Zhong S, Hu X, Zhou W, Shi Y, Huang R, Zhang X, Shi J, Lu C, Wang C, Yu L, Wu L, Wu W, Xia P, Sun Q, Zhu L, Wang Z, Zhang R, Lin X, Lv S, Wang Q, Qian S, Li K, Hong M. Huang B, et al. Genome Med. 2025 Nov 29;18(1):1. doi: 10.1186/s13073-025-01585-8. Genome Med. 2025. PMID: 41318446 Free PMC article.
Expanded gut microbial genomes from Chinese populations reveal population-specific genomic features related to human physiological traits.
Dong Q, Ma B, Zhou X, Huang P, Gao M, Yang S, Jiao Y, Zhou Y, Shi Z, Deng Q, Hua D, Wang X, Liu L, Zhang C, Zhang C, Kong M, He C, Wu T, Zou H, Shi J, Sheng Y, Wang Y; GMR Consortium; Tang L, Hu S, Zhong H, Sun W, Chen W, Zhai Q, Kong X, Zheng Y, Chen L. Dong Q, et al. Genome Med. 2025 Oct 31;17(1):137. doi: 10.1186/s13073-025-01566-x. Genome Med. 2025. PMID: 41174806 Free PMC article.
Typhi Mykrobe: fast and accurate lineage identification and antimicrobial resistance genotyping directly from sequence reads for the typhoid fever agent Salmonella Typhi.
Ingle DJ, Hawkey J, Hunt M, Iqbal Z, Keane JA, Afolayan AO, Ahmed N, Andleeb S, Ashton PM, Bogoch II, Carey ME, Chattaway MA, Crump JA, Diaz Guevara P, Howden BP, Izumiya H, Jacob JJ, Judd LM, Kapil A, Keddy KH, Kim JY, Levine MM, Morita M, Nair S, Octavia S, Okeke IN, Osadebamwen PE, Rahman SIA, Rokney A, Rasko DA, Shamanna V, Sikorski MJ, Smith AM, Sunmonu GT, Tagg KA, Wick RR, Dyson ZA, Holt KE; Global Typhoid Genomics Consortium. Ingle DJ, et al. Genome Med. 2025 Oct 24;17(1):130. doi: 10.1186/s13073-025-01551-4. Genome Med. 2025. PMID: 41327441 Free PMC article.
Genomic landscape of endometrial polyps.
Reinikka S, Mehine M, von Nandelstadh P, Ahvenainen T, Khamaiseh S, Nousiainen S, Jokinen V, Pasanen A, Bützow R, Sarvilinna N, Pitkänen E, Vahteristo P. Reinikka S, et al. Genome Med. 2025 Oct 24;17(1):132. doi: 10.1186/s13073-025-01556-z. Genome Med. 2025. PMID: 41137179 Free PMC article.
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Wang Y, Sams EI, Slaugh R, Crocker S, Hurtado EC, Tracy S, Hou YC, Markovic C, Valle K, Tate V, Belhassan K, Appelbaum E, Akinwe T, Starosta RT, Cao Y, Neilson A, Liu Y, Jensen N, Ghasemi R, Lindsay T, Manuel J, Couteranis S, Kremitzki M, Ustanik J, Antonacci T, Ng JK, Emory A, Metz L, DeLuca T, Lyons KN, Sinnwell T, Thomeczek B, Wang K, Sisneros N, Muraleedharan M, Kethireddy A, Corbo M, Gowda H, King KA, Gurnett CA, Dutcher SK, Gooch C, Li YE, Mitchell MW, Peterson KA, Horani A, Rosenfeld JA, Bi W, Stankiewicz P, Chao HT, Posey JE, Grochowski CM, Dardas Z, Puffenberger EG, Pearson CE, Kooy F, Annear D, Innes AM, Heinz M, Head R, Fulton R, Toutain S; 9P-ARCH; Antonacci-Fulton L, Cui X, Mitra RD, Cole FS, Neidich J, Dickson PI, Milbrandt J, Turner TN. Wang Y, et al. Genome Med. 2025 Oct 24;17(1):129. doi: 10.1186/s13073-025-01563-0. Genome Med. 2025. PMID: 41137173 Free PMC article.
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C, Frone MN, Mester J, de la Hoya M, Mai PL, Pesaran T, Achatz MI, Bassett R, Bustamante C, Crowley S, de Andrade KC, Evans DG, Feng B, Fuqua L, Harrell MI, Hatton JN, Huether R, Kesserwan C, Lee K, MacFarland SP, Maciaszek JL, Maxwell K, McGoldrick K, Murphy M, Nehoray B, Penkert J, Pinto EM, Plon SE, Schwartz-Levine A, Thompson AS, Wang W, Zambetti GP, Zelley K, James PA, Savage SA, Kratz CP, Spurdle AB. Fortuno C, et al. Genome Med. 2025 Oct 22;17(1):128. doi: 10.1186/s13073-025-01536-3. Genome Med. 2025. PMID: 41126324 Free PMC article. Review.
Recommendations for bioinformatics in clinical practice.
Lavrichenko K, Engdal ES, Marvig RL, Jemt A, Vignes JM, Almusa H, Saether KB, Briem E, Caceres E, Elvarsdóttir EM, Gíslason MH, Haanpää MK, Henmyr V, Hotakainen R, Kaasinen E, Kanninga R, Khan S, Lie-Nielsen MG, Madsen MB, Mähler N, Maqbool K, Neethiraj R, Nyrén K, Paavola M, Pruisscher P, Sheng Y, Singh AK, Srivastava A, Stautland TK, Andreasen DT, de Boer ETB, Vang S, Wirta V, Bagger FO. Lavrichenko K, et al. Genome Med. 2025 Oct 17;17(1):124. doi: 10.1186/s13073-025-01543-4. Genome Med. 2025. PMID: 41107899 Free PMC article. Review.
Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression.
Caggiano C, Morselli M, Qian X, Celona B, Thompson MJ, Wani S, Tosevska A, Taraszka K, Heuer G, Ngo ST, Steyn FJ, Nestor PJ, Wallace L, McCombe P, Heggie S, Thorpe K, McElligott C, English G, Henders A, Henderson R, Lomen-Hoerth C, Wray NR, McRae AF, Pellegrini M, Garton FC, Zaitlen N. Caggiano C, et al. Genome Med. 2025 Oct 16;17(1):115. doi: 10.1186/s13073-025-01542-5. Genome Med. 2025. PMID: 41094691 Free PMC article.
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.
Conil C, Bohlen J, Kroon EE, Jean-Juste MA, Manry J, Chaldebas M, Bean JM, Walsh KF, Dallmann-Sauer M, Rotival M, Seeleuthner Y, Marchal A, Mourelatos H, Fava VM, Zhang P, Kerner G, Skhoun H, Abid A, El Ouazzani H, Rafik A, Bousfiha AA, El Baghdadi J, Wilkinson RJ, Boisson-Dupuis S, Fitzgerald DW, Pape JW, Möller M, Hoal EG, Casanova JL, Abel L, Schurr E, Cobat A. Conil C, et al. Genome Med. 2025 Oct 15;17(1):121. doi: 10.1186/s13073-025-01547-0. Genome Med. 2025. PMID: 41094526 Free PMC article.
Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.
Vissers JHA, Mitchell C, Prall OWJ, Lo WY, Kanwal S, Luen SJ, Watts SC, Angel CM, Khoo C, Pang JB, Murray WK, Snell C, Christie M, Rebello RJ, Tothill RW, Pham K, Hofmann O, Fox SB, Grimmond SM. Vissers JHA, et al. Genome Med. 2025 Oct 7;17(1):107. doi: 10.1186/s13073-025-01534-5. Genome Med. 2025. PMID: 41053870 Free PMC article.
MicroRNA gene dynamics in immune cell subpopulations during aging and atherosclerosis disease development at single-cell resolution.
de Sande AH, Turunen T, Bouvy-Liivrand M, Örd T, Palani S, Lahnalampi M, Tundidor-Centeno C, Liljenbäck H, Virta J, Niskanen H, Jayasingha B, Smålander OP, Sinkkonen L, Mikkola L, Sauter T, Roivainen A, Lönnberg T, Kaikkonen MU, Heinäniemi M. de Sande AH, et al. Genome Med. 2025 Oct 6;17(1):112. doi: 10.1186/s13073-025-01530-9. Genome Med. 2025. PMID: 41053866 Free PMC article.
Genetic underpinnings of the heterogeneous impact of obesity on lipid levels and cardiovascular disease.
Kim D, Highland HM, Smit RAJ, Hysong MR, Buchanan VL, Young KL, Zhao C, Spracklen CN, Kilpeläinen TO, Guo B, Darst BF, Cai Y, Wang Z, Lundin J, Berndt SI, Manson JE, Marouli E, Lange L, Lange E, Fornage M, Gignoux CR, Haiman CA, Rich SS, Buyske S, Loos RJF, Kooperberg C, Peters U, Avery CL, Gordon-Larsen P, Graff M, Raffield LM, North KE. Kim D, et al. Genome Med. 2025 Oct 6;17(1):113. doi: 10.1186/s13073-025-01522-9. Genome Med. 2025. PMID: 41053791 Free PMC article.
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
El Chehadeh S, Heide S, Quélin C, Rio M, Margot H, Geneviève D, Isidor B, Goldenberg A, Guégan C, Lesca G, Willems M, Ormières C, Caumes R, Busa T, Bonneau D, Guerrot AM, Marey I, Vera G, Marzin P, Philippe A, Garde A, Coubes C, Vincent M, Michaud V, Mignot C, Charles P, Sigaudy S, Edery P, Lacombe D, Boland A, Nowak F, Bouctot M, Humbert-Asensio ML, Simon A, Chennen K, Sabour N, Delmas C, Nicolas G, Saugier-Veber P, Lecoquierre F, Cassinari K, Keren B, Courtin T, De Sainte Agathe JM, Malan V, Barcia G, Tran Mau-Them F, Safraou H, Philippe C, Thévenon J, Chatron N, Januel L, Piton A, Haushalter V, Gérard B, Lejeune C, Faivre L, Sanlaville D, Héron D, Odent S, Nitschké P, Schluth-Bolard C, Lyonnet S, Deleuze JF, Binquet C, Dollfus H; DEFIDIAG study group. El Chehadeh S, et al. Genome Med. 2025 Oct 3;17(1):110. doi: 10.1186/s13073-025-01527-4. Genome Med. 2025. PMID: 41044778 Free PMC article. Clinical Trial.
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K, Hamid H, Alhaddad B, Alfadhel M, Alhashem A, Eyaid W, Alanzi T, Al Mutairi F, Alswaid A, Ababneh F, Al Ghamdi M, Mohamed S, Alaskar A, Alqahtani F, Alzaidan H, Al-Owain M, Faqeih EA, Mushiba AM, Alanazi R, Almoallem B, Alsaleh NS, Al Tala S, Alshammari M, Turkistani A, Gosadi G, Hakami F, Alobaid F, Al Rukban H, Alfaidi A, Ba-Abbad R, Almuqbil MA, Al-Boukai A, Alamri AS, Alshehri A, Sulaiman RA, Almontasheri A, Danish E, AlSagheir A, Aljeaid D, Al-Awam BS, Shawli A, Al-Otaibi M, Majdali WS, Azher ZA, Almannai M, Baalawi W; Saudi Adult Genomics Group; AlAbdi L, Benoukraf T, Alkuraya FS. Bakur K, et al. Genome Med. 2025 Sep 29;17(1):105. doi: 10.1186/s13073-025-01529-2. Genome Med. 2025. PMID: 41024252 Free PMC article.
EMB is essential for enteric nervous system development mediated by PI3K signaling.
Li Z, Zhuansun D, Meng X, Yang H, Xiao J, Chen Y, Wang J, Yu X, Li Z, You J, Chen X, Feng C, Wu L, Chu X, Duan W, Wang K, Li Z, Tou J, Yu L, Tang W, Liu Y, Jiang X, Ren H, Yu M, Yin Q, Liu X, Xu Z, Wu D, Jiao C, Yu D, Wu X, Zhu T, Yang J, Xiang L, Wang J, Wang Q, Zhou B, Wang D, Chen K, Mao H, Wang B, Zhan J, Wang CY, Zeng W, Chen F, Xiong B, Feng J. Li Z, et al. Genome Med. 2025 Sep 25;17(1):102. doi: 10.1186/s13073-025-01538-1. Genome Med. 2025. PMID: 40999499 Free PMC article.
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D, Post C, Gaass F, Al-Tawil M, Arriens V, Balachandran S, Bäumer T, Berge V, Birgel F, Dalski A, Dittmar M, Franke A, Franzenburg S, Fuß J, Gehring B, Gembicki R, Greiten B, Grohte K, Hanker B, Händler K, Harder L, Hellenbroich Y, Herget T, Herrmann G, Hiort O, Hoff K, Hoffmann B, Hornig N, Hüning I, Kautza-Lucht M, Köhler J, Liegmann AS, Lisfeld J, Löscher BS, Margraf NG, Meyenborg M, Möllring A, Muhle H, Penas EMM, Nommels H, Papingi D, Poggenburg I, Pozojevic J, Rosenstiel P, Recke A, Roberts K, Rösler L, Rust F, Salewski MB, Schau-Römer K, Schlein C, Sreenivasan VKA, Toutouna L, Utermann-Thüsing C, van der Ven AT, Volk AE, Wehnert J, Wilson S, Woitschach R, Yumiceba V, Zühlke C, Münchau A, Brüggemann N, Vater I, Caliebe A, Nagel I, Spielmann M. Kaschta D, et al. Genome Med. 2025 Sep 18;17(1):100. doi: 10.1186/s13073-025-01516-7. Genome Med. 2025. PMID: 40963120 Free PMC article.
Integrating breast cancer polygenic risk scores at scale in the WISDOM Study: a national randomized personalized screening trial.
Fergus KB, Heise RS, Madlensky L, Fiscalini A, Sabacan L, Theiner S, Kapoor S, Soto IA, Blanco A, Ross K, Goodman-Gruen D, Scheuner M, Hu D, Heditsian D, Brain S, Arasu VA, Kaster A, Chapa L, Olopade OI, Eklund M, Tice JA, Ziv E, van 't Veer L, Esserman LJ, Shieh Y; Athena/WISDOM Network Collaborators and Advocate Partners. Fergus KB, et al. Genome Med. 2025 Aug 28;17(1):97. doi: 10.1186/s13073-025-01524-7. Genome Med. 2025. PMID: 40877879 Free PMC article. Clinical Trial.
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