Gene Lists

Gene ListPurpose and Criteria for SelectionLab
Cardiomyopathies-SteinmetzCRISPRi studies of genes related to congenital heart disease and cardiomyocytes.Lars Steinmetz, Stanford
SGE-StaritaACMG73 and GREGoR derived genes investigated using saturation genome editing to identify loss of function variants.Lea Starita, UW
VAMP-seqACMG73, GREGoR, CPIC derived genes investigated using VAMP-seq to identify loss of function variants.Doug Fowler, UW
Pancreatic differentiationCRISPRi related to pancreatic differentiationDanwei Huangfu, MSKCC
LDL-C uptakeGenes with strong nearby LDL-C GWAS signal (HNF1A and HNF4A have GWAS coding variants, others likely non-coding) and strong phenotype in LDL-C uptake screens.Luca Pinello, MGH
Cardiometabolic TFsTranscription factors associated with cardiometabolic disease to act as shared testing loci for characterization and mapping projectsCardiometabolic FG (Richard Sherwood, Brigham and Women's Hospital coordinating)
Cardiac - QuertermousTranscription factors associated with coronary artery disease (CAD) GWAS loci: CAD GWAS lead SNPs were LD-expanded and genes within +/- 500kb were intersected with gene expresssion and HiC data sets from smooth muscle cellsThomas Quertermous, Stanford
Cardiac - EngreitzTranscription factors and chromatin remodlers associated with GWAS of either coronary artery disease (CAD), BP, aortic diameter, or congenital heart disease (CHD) that are expressed in endothelial cells or mesenchymal cellsJesse Engreitz, Stanford
Cardiac - MunshiTranscription factors associated with congenital heart disease (CHD) variants identified by WGS that are within 1kb of ATAC/H3K27Ac peak and within 100kb of a GO heart development geneNikhil Munshi, UT
Pulmonary arterial hypertension - RabinovitchTranscription factors important in pulmonary arterial hypertension. ChIP Seq data for KLF2/4 in endothelial cells under laminar shear stressMarlene Rabinovitch, Stanford
Williams Syndrome - ShendureWilliams Syndrome (7q11.23), associated with autism, schizophrenia, neurodevelopmental delay, and congenital heart defectsJay Shendure, UW
Coronary Artery Disease - LettreGenes at coronary artery disease (CAD) GWAS loci implicated by pooled CRISPR screens in endothelial functions.Guillaume Lettre, MHI
Blood Master RegulatorsGenes that are master trans regulators identified in bloodJie Liu, UMich
Strong Selection - SunyaevGenes with evidence of strong selection (fitneess reduction >10%) against heterozygous loss-of-function variants have mostly unknown function. This set were also in the lowest 5% of genes for a pubmed score capturing how often they are mentioned in publications.Shamil Sunyaev, Brigham and Women's Hospital
16p11.2 Deletion - Shendure16p11.2 Deletion Syndrome, associated with autism, schizophrenia, neurodevelopmental delay, and obesityJay Shendure, UW
DiGeorge Syndrome - ShendureDiGeorge Syndrome (22q11.2), associated with autism, schizophrenia, neurodevelopmental delay, and congenital heart defectsJay Shendure, UW