Concepedia

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Felix Richter, Sarah U. Morton, Seong Won Kim, Alexander Kitaygorodsky, Lauren K. Wasson, Kathleen Chen, Jian Zhou, Hongjian Qi, Nihir Patel, Steven R. DePalma,

Nature Genetics · 2020 · 177 citations · 75 references

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75

Fast and accurate short read alignment with Burrows–Wheeler transform

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

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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

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An integrated encyclopedia of DNA elements in the human genome

Nature · 2012 · 19.4K citations · Full text

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Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

Sven Heinz, Christopher Benner, Nathanael J. Spann et al. · Molecular Cell · 2010 · 14.6K citations · Full text

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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

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