top of page

Genomics Resources

The Genome-Tissue Expression Database is a comprehensive database of 714 donors comprising 11688 samples which aims to link genetic variation (SNPs) with gene expression in 48 different tissues. The database is comprised of 65.8% male, 34.2% female, 85.2% Caucasian, 12.7% African American, 1.1% Asian, 0.7% Unknown, and 0.3% American Indian.

Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. Ensembl annotate genes, computes multiple alignments, predicts regulatory function and collects disease data.

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community. The data set provided on this website spans 125,748 exome sequences and 15,708 whole-genome sequences from unrelated individuals sequenced as part of various disease-specific and population genetic studies.

OMNI is a powerful browser that harmonizes knowledge, functional significance, population prevalence and available literature at the single nucleotide level. OMNI aims at providing access to the latest scores and tools of AI: machine learning, deep learning and natural language processing. This browser currently uses the genome assembly GRCh37 (hg19) from Genome Reference Consortium.

HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with chromatin state and protein binding annotation from the Roadmap Epigenomics and ENCODE projects, sequence conservation across mammals, the effect of SNPs on regulatory motifs, and the effect of SNPs on expression from eQTL studies.

GUAVA is a standalone GUI tool for the processing, analysis, and visualization of ATAC-seq data from raw sequencing reads to ATAC-seq signals. GUAVA can compare ATAC-seq signals from two conditions to identify genomic loci with differentially enriched ATAC-seq signals. Furthermore, GUAVA provides results on gene ontology and pathways analysis.

bottom of page