Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies.

Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in the...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Miao-Xin Li, Johnny S H Kwan, Su-Ying Bao, Wanling Yang, Shu-Leong Ho, Yong-Qiang Song, Pak C Sham
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Public Library of Science (PLoS) 2013-01-01
Цуврал:	PLoS Genetics
Онлайн хандалт:	http://europepmc.org/articles/PMC3547823?pdf=render
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!