相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
Gene inactivation and its implications for annotation in the era of personal genomics
Suganthi Balasubramanian et al.
GENES & DEVELOPMENT (2011)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Human non-synonymous SNPs: server and survey
V Ramensky et al.
NUCLEIC ACIDS RESEARCH (2002)