Concepedia

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Jason Flannick, Nicola L. Beer, Alexander G. Bick, Vineeta Agarwala, Janne Molnes, Namrata Gupta, Noël P. Burtt, José C. Florez, James B. Meigs, Herman A. Taylor,

Nature Genetics · 2013 · 139 citations · 76 references

DOI

Concepts

References

76

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

Reduction in the Incidence of Type 2 Diabetes with Lifestyle Intervention or Metformin

New England Journal of Medicine · 2002 · 19K citations · Full text

, , +1

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

, , +16

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