Concepedia

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

K. Nicole Weaver, Kristin E. Noack Watt, Robert B. Hufnagel, Joaquín Navajas Acedo, Luke L. Linscott, Kristen L. Sund, Patricia L. Bender, Rainer König, Charles Marques Lourenço, Ute Hehr,

The American Journal of Human Genetics · 2015 · 88 citations · 30 references

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30

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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Fast, scalable generation of high‐quality protein multiple sequence alignments using Clustal Omega

Fabian Sievers, Andreas Wilm, David Dineen et al. · Molecular Systems Biology · 2011 · 16.2K 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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Stages of embryonic development of the zebrafish

Charles B. Kimmel, William W. Ballard, Seth R. Kimmel et al. · Developmental Dynamics · 1995 · 12.3K citations

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An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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