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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Detalles Bibliográficos
Autores principales: Kothiyal, Prachi, Wong, Wendy S.W., Bodian, Dale L., Niederhuber, John E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mary Ann Liebert, Inc., publishers 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533806/
https://www.ncbi.nlm.nih.gov/pubmed/30942611
http://dx.doi.org/10.1089/cmb.2018.0253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533806/
https://www.ncbi.nlm.nih.gov/pubmed/30942611
http://dx.doi.org/10.1089/cmb.2018.0253

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