Cardiomyopathies-Steinmetz | CRISPRi studies of genes related to congenital heart disease and cardiomyocytes. | Lars Steinmetz, Stanford |
SGE-Starita | ACMG73 and GREGoR derived genes investigated using saturation genome editing to identify loss of function variants. | Lea Starita, UW |
VAMP-seq | ACMG73, GREGoR, CPIC derived genes investigated using VAMP-seq to identify loss of function variants. | Doug Fowler, UW |
Pancreatic differentiation | CRISPRi related to pancreatic differentiation | Danwei Huangfu, MSKCC |
LDL-C uptake | Genes 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 TFs | Transcription factors associated with cardiometabolic disease to act as shared testing loci for characterization and mapping projects | Cardiometabolic FG (Richard Sherwood, Brigham and Women's Hospital coordinating) |
Cardiac - Quertermous | Transcription 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 cells | Thomas Quertermous, Stanford |
Cardiac - Engreitz | Transcription 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 cells | Jesse Engreitz, Stanford |
Cardiac - Munshi | Transcription 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 gene | Nikhil Munshi, UT |
Pulmonary arterial hypertension - Rabinovitch | Transcription factors important in pulmonary arterial hypertension. ChIP Seq data for KLF2/4 in endothelial cells under laminar shear stress | Marlene Rabinovitch, Stanford |
Williams Syndrome - Shendure | Williams Syndrome (7q11.23), associated with autism, schizophrenia, neurodevelopmental delay, and congenital heart defects | Jay Shendure, UW |
Coronary Artery Disease - Lettre | Genes at coronary artery disease (CAD) GWAS loci implicated by pooled CRISPR screens in endothelial functions. | Guillaume Lettre, MHI |
Blood Master Regulators | Genes that are master trans regulators identified in blood | Jie Liu, UMich |
Strong Selection - Sunyaev | Genes 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 - Shendure | 16p11.2 Deletion Syndrome, associated with autism, schizophrenia, neurodevelopmental delay, and obesity | Jay Shendure, UW |
DiGeorge Syndrome - Shendure | DiGeorge Syndrome (22q11.2), associated with autism, schizophrenia, neurodevelopmental delay, and congenital heart defects | Jay Shendure, UW |