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Year Number of Results
1993 3
1998 1
2008 2
2009 6
2010 60
2011 321
2012 701
2013 1271
2014 1816
2015 2231
2016 2611
2017 2971
2018 3360
2019 3905
2020 4434
2021 4722
2022 357
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25,103 results
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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 …
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 …
A decade with whole exome sequencing in haematology.
Hansen MC, Haferlach T, Nyvold CG. Hansen MC, et al. Br J Haematol. 2020 Feb;188(3):367-382. doi: 10.1111/bjh.16249. Epub 2019 Oct 10. Br J Haematol. 2020. PMID: 31602633 Review.
The first decade of capture-based targeted whole exome sequencing (WES) has now passed, while the sequencing modality continues to find more widespread usage in clinical research laboratories and still offers an unprecedented diagnostic assay in terms …
The first decade of capture-based targeted whole exome sequencing (WES) has now passed, while the sequencing mod …
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, …
BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has subs …
The Third Revolution in Sequencing Technology.
van Dijk EL, Jaszczyszyn Y, Naquin D, Thermes C. van Dijk EL, et al. Trends Genet. 2018 Sep;34(9):666-681. doi: 10.1016/j.tig.2018.05.008. Epub 2018 Jun 22. Trends Genet. 2018. PMID: 29941292 Review.
A second revolution came when next-generation sequencing (NGS) technologies appeared, which made genome sequencing much cheaper and faster. ...Moreover, these technologies can directly detect epigenetic modifications on native DNA and allow whole-transcript …
A second revolution came when next-generation sequencing (NGS) technologies appeared, which made genome sequencing much cheape …
Whole exome sequencing in recurrent early pregnancy loss.
Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E. Qiao Y, et al. Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28. Mol Hum Reprod. 2016. PMID: 26826164 Free PMC article.
STUDY HYPOTHESIS: Exome sequencing can identify genetic causes of idiopathic recurrent pregnancy loss (RPL). ...Therefore, a large number of miscarriages still have an unknown cause. STUDY DESIGN, SAMPLES/MATERIALS, METHODS: Whole exome sequencing …
STUDY HYPOTHESIS: Exome sequencing can identify genetic causes of idiopathic recurrent pregnancy loss (RPL). ...Therefore, a l …
Exome Sequencing and Its Emerging Role in Prenatal Genetic Diagnosis.
Hopkins MK, Dugoff L, Kuller JA. Hopkins MK, et al. Obstet Gynecol Surv. 2020 May;75(5):317-320. doi: 10.1097/OGX.0000000000000787. Obstet Gynecol Surv. 2020. PMID: 32469417 Review.
OBJECTIVES: The objectives of this manuscript are to review current practices in prenatal genetic diagnosis, define exome sequencing, identify scenarios in which exome sequencing may be indicated, identify potential concerns regarding exome s …
OBJECTIVES: The objectives of this manuscript are to review current practices in prenatal genetic diagnosis, define exome sequenci …
Considerations for whole exome sequencing unique to prenatal care.
Abou Tayoun A, Mason-Suares H. Abou Tayoun A, et al. Hum Genet. 2020 Sep;139(9):1149-1159. doi: 10.1007/s00439-019-02085-7. Epub 2019 Nov 7. Hum Genet. 2020. PMID: 31701237 Review.
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. ...
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. ...
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Schwarze K, et al. Genet Med. 2018 Oct;20(10):1122-1130. doi: 10.1038/gim.2017.247. Epub 2018 Feb 15. Genet Med. 2018. PMID: 29446766 Free article.
PURPOSE: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). METHODS: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane …
PURPOSE: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequ …
Exome Sequencing in Clinical Hepatology.
Vilarinho S, Mistry PK. Vilarinho S, et al. Hepatology. 2019 Dec;70(6):2185-2192. doi: 10.1002/hep.30826. Hepatology. 2019. PMID: 31222768 Free PMC article. Review.
The clinical relevance of the Human Genome Project and next-generation sequencing technology was demonstrated for the first time in 2009, when whole-exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant w …
The clinical relevance of the Human Genome Project and next-generation sequencing technology was demonstrated for the first time in 2 …
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