Baylor-Johns Hopkins Center for Mendelian Genetics

$250,000UM1FY2018HGNIH

Johns Hopkins University, Baltimore MD

Investigators

Linked publications, trials & patents

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Abstract

SUMMARY OF PARENT AWARD: In its 7th year of funding, the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) aims to identify high penetrance variants causing Mendelian phenotypes in all the protein-coding genes in the human genome. To this end we have recruited samples from > 70 countries around the globe and used whole exome sequencing (WES) coupled with whole genome SNP arrays to search for the responsible genes and causative variants. Currently, we have studied >550 phenotypes and performed ~10,000 exomes and identified 107 novel Tier 1 genes and 251 Tier 2 genes. To facilitate this effort, we have developed and utilized PhenoDB, GeneMatcher and a variety of other software tools. Our results have been disseminated in 218 publications and by distribution of data in ClinVar and dbGaP.

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