A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

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PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

Yongwook Choi, Agnes P. Chan · Bioinformatics · 2015 · 2.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14