Concepedia

Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing

Wenshu Zhang, Valerii Soika, Joe Meehan, Ziying Su, Wenxuan Ge, Hui Wen Ng, Roger Perkins, Vahan Simonyan, Weida Tong, Huixiao Hong

The Pharmacogenomics Journal · 2014 · 10 citations · 45 references

DOI

Concepts

References

45

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

, , +17

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

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Panos Deloukas, Audrey Duncanson, Dominic Kwiatkowski et al. · Nature · 2007 · 9.6K citations · Full text

, , +12

Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study

Natalie Lippa, Saskia C. Sanderson · Human Heredity · 2013 · 6.1K citations

, , +11