Concepedia

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

Cornelis A. Albers, Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie‐Christine Alessi, Paul Bertone, Gregory E. Jordan, Ross Kettleborough, Graham Kiddle, Myrto Kostadima,

Nature Genetics · 2011 · 279 citations · 25 references

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25

The Sequence Alignment/Map format and SAMtools

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

, , +17

BEDTools: a flexible suite of utilities for comparing genomic features

Aaron R. Quinlan, Ira M. Hall · Bioinformatics · 2010 · 30.4K citations · Full text

, , +14

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

TopHat: discovering splice junctions with RNA-Seq

Cole Trapnell, Lior Pachter, Steven L. Salzberg · Bioinformatics · 2009 · 12.1K citations · Full text

, , +16

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

, , +17