Concepedia

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

Iuliana Ionita‐Laza, Seunggeun Lee, Vlad Makarov, Joseph D. Buxbaum, Xihong Lin

The American Journal of Human Genetics · 2013 · 463 citations · 45 references

Open access

Concepts

Life SciencesBiostatisticsGeneticsGenomicsHuman GeneticsStatistical GeneticsGenome-wide Association StudiesGenomic VariationGenotype-phenotype Association AnalysisRare Variant AnalysisRare Variant Association StudiesVariant AnalysisCommon Genetic VariantsJoint Analysis Of Common VariantsJoint Analysis Of Rare VariantsRare Variant Association AnalysisRare Variant Association TestingSequence Kernel Association TestingSequence Kernel Association Tests

References

45

The Sequence Alignment/Map format and SAMtools

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

Life Sciences, Bioinformatics, Genetics +17

Fast and accurate short read alignment with Burrows–Wheeler transform

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

Life Sciences, Bioinformatics, Biology +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

Life Sciences, Bioinformatics, Genetics +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

Life Sciences, Bioinformatics, Genetics +17

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

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

Life Sciences, Bioinformatics, Biology +16