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Year Number of Results
2014 1
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Page 1
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F, Li R, Yu Q, Wang D, Deng Q, Li L, Lei T, Chen G, Nie Z, Yang X, Han J, Pan M, Zhen L, Zhang Y, Jing X, Li F, Li F, Zhang L, Yi C, Li Y, Lu Y, Zhou H, Cheng K, Li J, Xiang L, Zhang J, Tang S, Fang P, Li D, Liao C. Fu F, et al. Genome Med. 2022 Oct 28;14(1):123. doi: 10.1186/s13073-022-01130-x. Genome Med. 2022. PMID: 36307859 Free PMC article.
BACKGROUND: Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. ...This is by far the largest pES cohort study that co …
BACKGROUND: Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical …
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 …
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yields in individuals w …
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 …
Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexp …
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 …
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. ...Interpretation of noncoding variants remains challenging, an …
Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studie …
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. ...RESULTS: Reanalysis of existing ES data alone at two timepoints did not yield new di …
BACKGROUND: Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsol …
Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.
Pauta M, Martinez-Portilla RJ, Borrell A. Pauta M, et al. Ultrasound Obstet Gynecol. 2022 Jun;59(6):715-722. doi: 10.1002/uog.24862. Ultrasound Obstet Gynecol. 2022. PMID: 35041238 Free article.
OBJECTIVE: To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem structural anomalies (at least two major anomalies in different anatomical systems). ...RESULT …
OBJECTIVE: To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CM …
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
van der Sanden BPGH, Corominas J, de Groot M, Pennings M, Meijer RPP, Verbeek N, van de Warrenburg B, Schouten M, Yntema HG, Vissers LELM, Kamsteeg EJ, Gilissen C. van der Sanden BPGH, et al. Genet Med. 2021 Aug;23(8):1569-1573. doi: 10.1038/s41436-021-01174-1. Epub 2021 Apr 12. Genet Med. 2021. PMID: 33846582 Free article.
METHODS: We assessed diagnostic utility of STR analysis in exome sequencing by applying ExpansionHunter to 2,867 exomes from movement disorder patients and 35,228 other clinical exomes. ...CONCLUSION: Our work provides guidance for the implement …
METHODS: We assessed diagnostic utility of STR analysis in exome sequencing by applying ExpansionHunter to 2,867 exomes …
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT. Greenberg ABW, et al. JAMA Netw Open. 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. JAMA Netw Open. 2023. PMID: 37991765 Free PMC article.
Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023. MAIN OUTCOMES AND MEASURES: The primary outcome was pooled diagnostic yield. Additional diagnostic yields were estimated for s …
Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023. MAIN OU …
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148 Free PMC article.
The addition of CNV detection to exome analysis identified causal CNVs for 171 families (2.6%). ...Our improvements to the classification approach advances the systematic framework to assess the pathogenicity of CNVs....
The addition of CNV detection to exome analysis identified causal CNVs for 171 families (2.6%). ...Our improvements to …
40 results