vswilliamson/phenotips
PhenoTips provides an easy-to-use Web interface and standardized database back-end for collecting clinical findings observed in patients with possible genetic disorders.
MuTect -- Accurate and sensitive cancer mutation detection
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PhenoTips provides an easy-to-use Web interface and standardized database back-end for collecting clinical findings observed in patients with possible genetic disorders.
Evaluating the performance of bioinformatics’ pipelines for Next Generation re-Sequencing
MetaSV: An accurate and integrative structural-variant caller for next generation sequencing
Torrent Suite