[genome-announce] denovo-db tracks for hg19 now available

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Jairo Navarro Gonzalez

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Mar 14, 2025, 7:29:41 PMMar 14
to genome-...@soe.ucsc.edu
Hello everyone,

We are excited to announce the release of two denovo-db V.1.6.1 tracks for the hg19/GRCh37 genome assembly. The denovo-db (version 1.6.1) is a curated database of germline de novo variants in the human genome, defined as variants present in children but absent in their parents. With advancements in whole-exome and whole-genome sequencing, denovo-db consolidates data from extensive genetic studies, including those on neurodevelopmental disorders, but is not restricted to specific phenotypes. This database provides essential resources for researchers investigating variant characteristics, mutability, and associated phenotypes.

The denovo-db V.1.6.1 composite track contains Simons Simplex Collection (SSC) samples and non-ssc samples. The use of Simons Simplex Collection (SSC) is limited to projects related to advancing the field of autism and related developmental disorder research. Questions on SSC consents should be directed to colle...@sfari.org. If you have questions or comments about the denovo-db, please write to deno...@uw.edu.

We would like to thank denovo-db and the Simons Simplex Collection for making this data available. We would also like to thank Megna Chalamala, Gerardo Perez, Ana Benet-Pagès, and Jairo Navarro for the creation and release of these tracks on the UCSC Genome Browser.


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