Tag: exome sequencing

Genomics England PanelApp is a publicly-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes and genomic entities (short tandem repeat ...

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. ...

UK Biobank is a large-scale biomedical database and research resource that provides researchers access to detailed longitudinal phenotype, medical and genetic data from 500,000 volunteer participants.

NHLBI Exome Sequencing Project (ESP): Exome Variant Server (EVS) for browsing single nucleotide variation data from exome sequencing experiments mainly focused on heart, lung and blood disorders.

Review and classification of published variants in the ARSB gene. The purpose of this database is to support researchers and clinicians. understand structural changes on alylsulfatase B (ASB) caused by Mucopolysaccharidosis type VI (MPS6) mutations ...

an integrated database and analytic platform for de novo mutations in humans. De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome sequencin ...

The large-scale variant database of 1722 Koreans based on whole genome sequencing.

dbMTS is a comprehensive database of putative human microRNA target site (MTS) SNVs and their functional predictions. dbMTS collects all potential SNVs microRNA target seed regions in human 3’UTRs and provides their functional predictions and annotat ...

A database of somatic mutations in normal human tissues.

Platform for storing and using pangenomes for imputation.

CanVaS is a Greek cancer patient genetic variation resource.

COGVIC(Catalogue Of Germline Variants In Cancer). A comprehensive database of germline pathogenic variants in East Asian pan-cancer patients.

Multi-ethnic database for identifying copy number variations associated with cancer. View gene-centric CNV profile collected from healthy individuals and multiple cancer types.

An ethnic-specific database of Indian germline variants.

ATAV is a comprehensive platform for population-scale genomic analyses. ATAV stores variant and per site coverage data for all samples in a centralized database, which is efficiently queried by ATAV to support diagnostic analyses for trios and single ...