RT @ksamocha: In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe….

RT @gnomad_project: Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38.….

RT @gnomad_project: To learn more about the impact of diversity on variant discovery and gene constraint please attend Katherine Chao’s #AS….

RT @gnomad_project: As part of #gnomAD v4, in collaboration with the @TalkowskiLab, we have released 1,199,117 genome SVs and 66,903 rare e….

RT @ksamocha: On my way to #ASHG2023 and excited to chat science and see colleagues. I’m also #hiring — looking for postdocs interested in….

RT @gnomad_project: The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes….

RT @_aki_nishimura: @jhubiostat is hiring! Tenure-track positions (open-rank, open-area) to keep us at the forefront of data-driven public….

RT @alexisjbattle: My lab is recruiting postdocs broadly working on genomics in health/medicine and would be thrilled to have a Malone Fell….

RT @Lizstuartdc: Love teaching + biostats + public health? . Come join @jhubiostat! .

RT @AnneOtation: So impressed with the science at #ASHG22 - very inspiring! But also still a lot of important work still to be done. Follow….

RT @CAuwerx: Do CNVs influence susceptibility to common diseases? 🧬 . Come find out at tomorrow‘s #ASHG2022 poster session (Oct. 27th from….

RT @ksamocha: Also: I am looking to grow my team in Boston and have open positions across various levels, and would love to chat with anyon….

RT @danweiner92: Both common and rare genetic variants are relevant for autism. But are they biologically convergent?. Today in @NatureGen….

RT @getian107: I'm looking to hire postdocs to join my newly established lab in @CGM_MGH. I will be at #ASHG22 this week. Feel free to reac….

RT @agbt: Abstract Select: Harrison Brand from @MassGeneralNews focuses on comprehensive and non-invasive fetal screen of all coding variat….

RT @ce_carey: I’m pleased to share the attached preprint, which is the culmination of 4+ years of work trying to unpack the human phenome a….

Many thanks again to the outstanding interdisciplinary team that worked together to produce this tool and generate this resource, including computer scientists, statistical geneticists, and all the senior authors that supported our goal to develop this resource!! (8/8).

We compared rare CNVs in @uk_biobank to metrics of evolutionary constraint and association against 478 traits. These analyses recapitulated correlations with constraint observed by @gnomad_project and known associations, as well as a few additional insights worth exploring. (7/8)

As a demonstration, using the Terra infrastructure we generated CNVs on 200,000 ES samples from the @uk_biobank. This reference dataset has been returned to the UKBB for approval and dissemination for open use by the community - please go find new CNV associations! (6/8).

GATK-gCNV will be supported by the wonderful members of @broadinstitute, including an example workspace on the Terra cloud-computing infrastructure: and a dedicated support forum: (5/8).