Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error

Next-generation sequencing enables advances in the clinical application of genomics by providing high-throughput detection of genomic variation. However, next-generation sequencing technologies, especially whole-genome sequencing (WGS), are often associated with a high false-positive rate. Trio-base...

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Veröffentlicht in:	Journal of computational biology 2019-05, Vol.26 (5), p.405-419
Hauptverfasser:	Kothiyal, Prachi, Wong, Wendy S W, Bodian, Dale L, Niederhuber, John E
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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