Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
作者： Yingrui Li , Nicolas Vinckenbosch , Geng Tian , Emilia Huerta-Sanchez , Tao Jiang
DOI: 10.1038/NG.680
关键词: Allele 、 Biology 、 Single-nucleotide polymorphism 、 Minor allele frequency 、 Population 、 Genetic variation 、 Genetics 、 Allele frequency 、 Exome 、 Exome sequencing
摘要: Targeted capture combined with massively parallel exome sequencing is a promising approach to identify genetic variants implicated in human traits. We report exome sequencing of …
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