Hum Mutat. 2015 Feb 14. doi: 10.1002/humu.22769. [Epub ahead of print]
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, A Web-based Tool for Linking Investigators with an Interest in the Same Gene.
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Mendelian disease; Whole exome sequencing; mutation; next-generation sequencing; whole genome sequencing
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