Concepedia

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

Clara Sze-Man Tang, Xuehan Zhuang, Wai-Yee Lam, Jacob Shujui Hsu, YU Michelle, So Man-Ting, Stacey S. Cherny, Ngoc Diem Ngo, Pak C. Sham, Paul KH Tam,

European Journal of Human Genetics · 2018 · 24 citations · 38 references

DOI

Concepts

References

38

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

, , +12

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

, , +17

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

Damian Szklarczyk, John H. Morris, Helen Cook et al. · Nucleic Acids Research · 2016 · 7.4K citations · Full text

, , +17

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Tobias Rausch, Thomas Zichner, Andreas Schlattl et al. · Bioinformatics · 2012 · 2.7K citations · Full text

, , +17

BEDTools: The Swiss‐Army Tool for Genome Feature Analysis

Aaron R. Quinlan · Current Protocols in Bioinformatics · 2014 · 2.7K citations

, , +13