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Protocols

ExAC browser specifications

Information


Unique identifier OMICS_29999
Name ExAC browser
Alternative names Exome Aggregation Consortium browser, exome aggregation consortium
Restrictions to use None
Database management system NoSQL
Community driven Yes
Data access File download, Browse
User data submission Allowed
Version 0.3.1
Content license ODC Open Database License (ODbL)
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Documentation


Maintainers


  • person_outline ExAC Team
  • person_outline Konrad J Karczewski

Additional information


http://exac.broadinstitute.org/about

Publication for Exome Aggregation Consortium browser

ExAC browser citations

 (70)
library_books

Patient with multiple acyl CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

2018
BMC Med Genomics
PMCID: 5883299
PMID: 29615056
DOI: 10.1186/s12920-018-0356-8

[…] assing these quality filters were annotated with information from public annotation databases using ANNOVAR. We exclude common variants with allele frequency greater than 0.05 in the 1000 Genomes and ExAC Browser. Choice of variants for further analysis were limited to genes implicated in glutaric academia, carnitine metabolism and acyl coenzyme metabolism; and supported by in silico analysis by d […]

call_split

Combining targeted panel based resequencing and copy number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

2018
Sci Rep
PMCID: 5869593
PMID: 29588463
DOI: 10.1038/s41598-018-23520-1
call_split See protocol

[…] on rare variants with a minor allele frequency (MAF) ≤0.005 in 1000 Genomes (http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/), Exome Variant Server (EVS) (http://evs.gs.washington.edu/EVS/), ExAC Browser (http://exac.broadinstitute.org/), and CIBERER Spanish Variant Server (http://csvs.babelomics.org/); iv) missense SNV and in-frame deletions that induced an alteration in the protein pred […]

library_books

Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

2018
Front Physiol
PMCID: 5852105
PMID: 29568272
DOI: 10.3389/fphys.2018.00177

[…] t server (http://evs.gs.washington.edu/EVS/), as well as Polyphen2, SIFT and Mutation Taster were used (Table ). For data interpretation, human gene mutation database (HGMD, Biobase), 1000 genoms and ExAC browser were used. […]

library_books

Targeted next generation sequencing analysis in couples at increased risk for autosomal recessive disorders

2018
Orphanet J Rare Dis
PMCID: 5787287
PMID: 29373990
DOI: 10.1186/s13023-018-0763-0

[…] r, the OMIM catalog, the Human Gene Mutation Database (HGMD) and the ClinVar database. The following criteria were used to look for rare potentially deleterious variants: MAF < 1% in dbSNP138, ESP or ExAC Browser, or present in HGMD or ClinVar as a disease-causing variant. Only variants that were non-synonymous coding or splice-site variants including small indels and predicted to be pathogenic or […]

library_books

Compound heterozygous loss of function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

2018
PLoS Genet
PMCID: 5794171
PMID: 29357359
DOI: 10.1371/journal.pgen.1007138

[…] premature stop codon 15 amino acids downstream. These observations suggest that both variants are likely to affect protein function.These variants were absent in the population control exomes. In the ExAC Browser database, containing genetic data of 60 706 humans of various ethnicities, the missense variant was found in 2 individuals, respectively of South Asian and European origin. The frameshift […]

library_books

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

2017
PMCID: 5902401
PMID: 29274115
DOI: 10.1002/mgg3.358

[…] ent's healthy daughter (IV‐1) did not carry this mutation (Figure a). Genomic DNA from further family members was not available limiting a cosegregation analysis. Public genetic population databases (ExAc Browser, http://exac.broadinstitute.org; Exome Variant Server, http://evs.gs.washington.edu/EVS; Human Mutation Gene Database, http://www.hgmd.cf.ac.uk; October 2017) do not contain this mutation […]

Citations

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ExAC browser institution(s)
Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
ExAC browser funding source(s)
Supported by NIGMS Fellowship [F32GM115208]; Australian National Health and Medical Research Council C.J. Martin Fellowship, Australian American Association Sir Keith Murdoch Fellowship and the MDA/AANEM Development Grant; NIGMS [R01 GM104371 and NIDDK U54 DK105566].

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