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gnomAD v3.1.2gnomAD v2.1.1gnomAD SVs v2.1ExAC

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gnomAD


GENOME AGGREGATION DATABASE

gnomAD v3.1.2gnomAD v2.1.1gnomAD SVs v2.1ExAC

Or
 * Find co-occurrence of two variants
 * Download gnomAD data
 * Read gnomAD publications

Please note that gnomAD v2.1.1 and v3.1.2 have substantially different but
overlapping sample compositions and are on different genome builds. For more
information, see "Should I switch to the latest version of gnomAD?"


EXAMPLES

 * Gene: PCSK9
 * Transcript: ENST00000302118
 * gnomAD v3.1.2 variant: 1-55051215-G-GA
 * gnomAD v3 mitochondrial variant: M-8602-T-C
 * gnomAD v3 short tandem repeat locus: DMD
 * gnomAD v2.1.1 variant: 1-55516888-G-GA
 * gnomAD v2 structural variant: DUP_2_5708
 * Variant co-occurrence: 1-55505647-G-T and 1-55523855-G-A


NEW TO GNOMAD?

Check out these resources to learn about gnomAD and how to use it for variant
interpretation.

 * Gudmundsson et al. Variant interpretation using population databases: Lessons
   from gnomAD. Hum Mutat. 2022 Aug;43(8):1012-1030.
 * Using gnomAD - tips and tricks (video)
 * gnomAD: Using large genomic data sets to interpret human genetic variation
   (video)
 * Six lessons for variant interpretation


ABOUT GNOMAD

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 v2.1.1 data set (GRCh37/hg19) 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. The v3.1.2
data set (GRCh38) spans 76,156 genomes of diverse ancestries, selected as in v2.
The gnomAD Principal Investigators and groups that have contributed data to the
current release are listed here.

All data here are released for the benefit of the wider biomedical community,
without restriction on use - see the terms of use. Sign up for our mailing list
for future release announcements.