Concepedia

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Danish Saleheen, Pradeep Natarajan, Irina M. Armean, Wei Zhao, Asif Rasheed, Sumeet A. Khetarpal, Hong‐Hee Won, Konrad J. Karczewski, Anne O’Donnell‐Luria, Kaitlin E. Samocha,

Nature · 2017 · 356 citations · 52 references

DOIFull text

Open access

Concepts

References

52

Fast and accurate short read alignment with Burrows–Wheeler transform

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

, , +12

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

, , +13

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

Principal components analysis corrects for stratification in genome-wide association studies

Alkes L. Price, Nick J. Patterson, Robert M. Plenge et al. · Nature Genetics · 2006 · 10.7K citations

, , +12