Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

作者：Andy Rimmer, Hang T. T. Phan, Iain Mathieson, Zamin Iqbal, Stephen R.F. Twigg, Andrew O.M. Wilkie, Gil McVean, Gerton A. Lunter · 发表于：Nature Genetics · 年份：2014 · DOI：10.1038/ng.3036 · 被引用次数：1203 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Biomedical Text Mining and Ontologies