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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

PURPOSE: Develop an automated exome analysis workflow that can produce a very small number of candidate variants yet still detect different numbers of deleterious variants between probands and unaffected siblings. METHODS: 97 outbred nuclear families from the Undiagnosed Diseases Program/ Network in...

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التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Genet Med
المؤلفون الرئيسيون:	Gu, Fangning, Wu, Anchi, Gordon, M. Grace, Vlahos, Lukas, Macnamara, Shane, Burke, Elizabeth, Malicdan, May C, Adams, David R, Tifft, Cynthia J, Toro, Camilo, Gahl, William A, Markello, Thomas C
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	2019
الموضوعات:	Article
الوصول للمادة أونلاين:	https://ncbi.nlm.nih.gov/pmc/articles/PMC6669106/ https://ncbi.nlm.nih.gov/pubmed/30700791 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0434-0
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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings

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