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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortiu… See abstract for full author list ➔ Laurie S, et al. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Nat Med. 2025. PMID: 39825153 Free PMC article.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, …
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular sc …
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL, Spencer EG, Topol SE, Muse ED, Rueda M, Lucas JR, Wagner GN, Campman S, Topol EJ, Torkamani A. Salfati EL, et al. Genome Med. 2019 Dec 17;11(1):83. doi: 10.1186/s13073-019-0702-2. Genome Med. 2019. PMID: 31847883 Free PMC article.
Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively. CONCLUSIONS: The basis of new finding …
Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained …
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Wenger AM, Guturu H, Bernstein JA, Bejerano G. Wenger AM, et al. Genet Med. 2017 Feb;19(2):209-214. doi: 10.1038/gim.2016.88. Epub 2016 Jul 21. Genet Med. 2017. PMID: 27441994 Free article.
We examined the ability of systematic reevaluation of exome data to establish additional diagnoses. METHODS: The exome and phenotypic data of 40 individuals with previously nondiagnostic clinical exomes were reanalyzed with …
We examined the ability of systematic reevaluation of exome data to establish additional diagnoses. METHODS: The …
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I, Bartolomaeus T, Popp B, Radtke M, Helms T, Hentschel J, Popp D, Jamra RA. Halfmeyer I, et al. Genes (Basel). 2022 Dec 22;14(1):30. doi: 10.3390/genes14010030. Genes (Basel). 2022. PMID: 36672771 Free PMC article.
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yields in individuals with rare diseases, but its implementation in the daily routines of laboratories is limited due to restricted capacities. Here, we describe a sys …
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yields in individuals with rar …
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB, Stapleton R, Stark Z, Delatycki MB, Yeung A, Hunter MF, Amor DJ, Brown NJ, Stutterd CA, McGillivray G, Yap P, Regan M, Chong B, Fanjul Fernandez M, Marum J, Phelan D, Pais LS, White SM, Lunke S, Tan TY. Tan NB, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1508. doi: 10.1002/mgg3.1508. Epub 2020 Sep 23. Mol Genet Genomic Med. 2020. PMID: 32969205 Free PMC article. Review.
BACKGROUND: Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. ...At 25-34 months we reviewed all cases and the strategies which solved them. RESULTS: Rea …
BACKGROUND: Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data fo …
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enab …
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data h …
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.
Fattahi Z, Shokouhian E, Peymani F, Babanejad M, Beheshtian M, Edizadeh M, Molaei N, Alagha P, Ghodratpour F, Keshavarzi F, Moghadam MG, Arzhangi S, Kahrizi K, Najmabadi H. Fattahi Z, et al. Clin Genet. 2025 Jun;107(6):612-619. doi: 10.1111/cge.14692. Epub 2025 Jan 2. Clin Genet. 2025. PMID: 39748273
In this study, we reanalyzed WES data from 159 Iranian families showing recessively inherited ID. The reanalysis was conducted with an initial clinical re-evaluation of the patients and their families, followed by data reanalysis using two updat …
In this study, we reanalyzed WES data from 159 Iranian families showing recessively inherited ID. The reanalysis was conducted …
Clinical Exome Reanalysis: Current Practice and Beyond.
Ji J, Leung ML, Baker S, Deignan JL, Santani A. Ji J, et al. Mol Diagn Ther. 2021 Sep;25(5):529-536. doi: 10.1007/s40291-021-00541-7. Epub 2021 Jul 20. Mol Diagn Ther. 2021. PMID: 34283395 Free PMC article. Review.
Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. ...Automation in ongoing natural …
Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield …
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Tejero E, de Haro MJR, Pujol R, Bogliolo M, Rodríguez-Santiago B, Surrallés J. Tejero E, et al. Orphanet J Rare Dis. 2025 Oct 14;20(1):511. doi: 10.1186/s13023-025-03928-5. Orphanet J Rare Dis. 2025. PMID: 41088272 Free PMC article.
BACKGROUND: Initial Whole Exome Sequencing frequently fails to resolve rare disease cases. Bioinformatic reanalysis of existing genomic data utilizes advancing knowledge to enhance diagnosis without additional testing. ...RESULTS: Whole Exome Se …
BACKGROUND: Initial Whole Exome Sequencing frequently fails to resolve rare disease cases. Bioinformatic reanalysis of existin …
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G, Schieving JH, Yntema HG, Pennings M, Pfundt R, Derks R, Hofste T, de Wijs I, Wieskamp N, van den Heuvel S, Galbany JC, Gilissen C, Nelen M, Brunner HG, Kleefstra T, Kamsteeg EJ, Willemsen MAAP, Vissers LELM. Schobers G, et al. Genome Med. 2022 Jun 17;14(1):66. doi: 10.1186/s13073-022-01069-z. Genome Med. 2022. PMID: 35710456 Free PMC article.
Importantly, not all patients are routinely re-evaluated in clinical care, prolonging their diagnostic trajectory, unless systematic reanalysis is facilitated. We have translated our observations into considerations for systematic and ad hoc …
Importantly, not all patients are routinely re-evaluated in clinical care, prolonging their diagnostic trajectory, unless s …
16 results