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Whole Exome Sequencing: Applications in Prenatal Genetics.
Jelin AC, Vora N. Jelin AC, et al. Obstet Gynecol Clin North Am. 2018 Mar;45(1):69-81. doi: 10.1016/j.ogc.2017.10.003. Obstet Gynecol Clin North Am. 2018. PMID: 29428287 Free PMC article. Review.
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. ...
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fet …
Bioinformatics Analysis of Whole Exome Sequencing Data.
Ulintz PJ, Wu W, Gates CM. Ulintz PJ, et al. Methods Mol Biol. 2019;1881:277-318. doi: 10.1007/978-1-4939-8876-1_21. Methods Mol Biol. 2019. PMID: 30350213
This chapter contains a step-by-step protocol for identifying somatic SNPs and small Indels from next-generation sequencing data of tumor samples and matching normal samples. The workflow presented here is largely based on the Broad Institute's "Best Practices" guidelines …
This chapter contains a step-by-step protocol for identifying somatic SNPs and small Indels from next-generation sequencing data of t …
Rapid Exome and Genome Sequencing in the Intensive Care Unit.
Muriello M, Basel D. Muriello M, et al. Crit Care Clin. 2022 Apr;38(2):173-184. doi: 10.1016/j.ccc.2021.11.001. Crit Care Clin. 2022. PMID: 35369941 Review.
Advances in sequencing technology have improved reliability of rapid results and reduced turnaround times. Cost savings to health care institutions are not only the result of reduced sequencing charges (which have paralleled advances in sequencing technology) …
Advances in sequencing technology have improved reliability of rapid results and reduced turnaround times. Cost savings to health car …
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Platt CD, Zaman F, Bainter W, Stafstrom K, Almutairi A, Reigle M, Weeks S, Geha RS, Chou J; International Consortium for Immunodeficiencies. Platt CD, et al. J Allergy Clin Immunol. 2021 Feb;147(2):723-726. doi: 10.1016/j.jaci.2020.08.022. Epub 2020 Sep 2. J Allergy Clin Immunol. 2021. PMID: 32888943 Free PMC article.
BACKGROUND: Next-generation sequencing has become a first-line tool for the diagnosis of primary immunodeficiency. However, patient access remains limited because of restricted insurance coverage and a lack of guidelines addressing the use of targeted panels versus whole- …
BACKGROUND: Next-generation sequencing has become a first-line tool for the diagnosis of primary immunodeficiency. However, patient a …
Exome sequencing in genetic disease: recent advances and considerations.
Ross JP, Dion PA, Rouleau GA. Ross JP, et al. F1000Res. 2020 May 6;9:F1000 Faculty Rev-336. doi: 10.12688/f1000research.19444.1. eCollection 2020. F1000Res. 2020. PMID: 32431803 Free PMC article. Review.
Over the past decade, exome sequencing (ES) has allowed significant advancements to the field of disease research. ...We then discuss shortcomings of ES in terms of variant discoveries made by other sequencing technologies that would be missed because of the …
Over the past decade, exome sequencing (ES) has allowed significant advancements to the field of disease research. ...We then …
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Petrovski S, et al. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878
BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its val …
BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has subs …
Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
Bomba L, Walter K, Guo Q, Surendran P, Kundu K, Nongmaithem S, Karim MA, Stewart ID, Langenberg C, Danesh J, Di Angelantonio E, Roberts DJ, Ouwehand WH; INTERVAL study; Dunham I, Butterworth AS, Soranzo N. Bomba L, et al. Am J Hum Genet. 2022 Jun 2;109(6):1038-1054. doi: 10.1016/j.ajhg.2022.04.009. Epub 2022 May 13. Am J Hum Genet. 2022. PMID: 35568032 Free PMC article.
Metabolite levels measured in the human population are endophenotypes for biological processes. We combined sequencing data for 3,924 (whole-exome sequencing, WES, discovery) and 2,805 (whole-genome sequencing, WGS, replication) donors from a prospecti …
Metabolite levels measured in the human population are endophenotypes for biological processes. We combined sequencing data for 3,924 …
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727 Free article.
OBJECTIVE: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children and adults with various neuromuscular symptoms. ...Hence, the advantage of panel-based WES is its unbiased approach. CONCLUSION: Whole e …
OBJECTIVE: To establish the clinical utility of panel-based whole exome sequencing (WES) in NMDs in a population with children …
Exome sequencing in the assessment of congenital malformations in the fetus and neonate.
Mone F, Quinlan-Jones E, Ewer AK, Kilby MD. Mone F, et al. Arch Dis Child Fetal Neonatal Ed. 2019 Jul;104(4):F452-F456. doi: 10.1136/archdischild-2018-316352. Epub 2019 Feb 1. Arch Dis Child Fetal Neonatal Ed. 2019. PMID: 30816854 Free article. Review.
The potential introduction of next-generation sequencing, primarily through exome sequencing, into perinatal practice may improve the pathological diagnostic yield. ...
The potential introduction of next-generation sequencing, primarily through exome sequencing, into perinatal practice m …
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H, Huang X, Xing Y, Shen Y. Dan H, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1131. doi: 10.1002/mgg3.1131. Epub 2020 Jan 20. Mol Genet Genomic Med. 2020. PMID: 31960602 Free PMC article.
Genomic DNA samples from probands were analyzed by targeted panels or whole exome sequencing. Bioinformatics analysis, Sanger sequencing, and available family member segregation were used to validate sequencing data and confirm the identities of diseas …
Genomic DNA samples from probands were analyzed by targeted panels or whole exome sequencing. Bioinformatics analysis, Sanger …
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