Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 56.2K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

Paul A. Harris, Robert Taylor, Robert J. Thielke et al. · Journal of Biomedical Informatics · 2008 · 51.7K citations · Full text

Management, Biomedical Informatics, Information Systems +17

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An integrated encyclopedia of DNA elements in the human genome

Nature · 2012 · 19.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17