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Spinal Muscular Atrophy (SMA) can be diagnosed from short read genomes using SMNCopyNumberCaller [Chen 2020], but there are no publicly available tools for hg38 exomes or targeted seq. data, so we created & validated a new tool: 1/N

The CAGI flagship paper establishes progress and prospects for computational genetic variant interpretation methods. It draws conclusions from the first 10 years of CAGI assessments genomebiology.biomedcentral.com/articles/10.11… 1/n

Towards improving variant classification, we took a look at the recent PP3/BP4 Pejaver et al. recommendations and some guidance on the individual impact of applying computational predictors at increased strength. Excited to share!

Some updated guidance on our gnomAD v4 constraint scores: gnomad.broadinstitute.org/news/2024-03-g… The Genome Aggregation Database is hard at work on v4.1 and improvements across the board, so expect more updates. Thanks to Katherine Chao for spearheading this blogpost.

📢New from Anne O'Donnell-Luria & colleagues 📰 Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Broad Institute Manton Center Gene Discovery Core cell.com/ajhg/abstract/…

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year. The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and

gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1

So incredibly happy for super 🌟 DPhil student Yuyang Chen for winning an early career award for his @eshg2024 presentation. So well deserved 👏🎉

Excited to share GeniE, a new tool for calculating genetic prevalence of recessive disorders, led by Samantha Baxter, important contributions from many on the team, and partnership with Chan Zuckerberg Initiative and #rareasone

Excited to share our work on the diagnostic power of genome sequencing when directly assessing cases with exome data - 8% additional yield - if we analyze genomes as more than an exome. Thanks Monica Hsiung Wojcik Rami Abou Jamra Heidi Rehm and Broad CMG GREGoR Consortium collaborators!

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in AJHG 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

A new, rare genetic disorder is the 1st human disease caused by loss of one copy of a long noncoding RNA gene. The family of Emma Broadbent, the first person diagnosed with the CHASERR-related disorder, was instrumental in the discovery & her diagnosis. broad.io/Chaserr

Save the date! Join us #AnVILCommunityConference2025 on September 4-5, 2025 in Nashville, TN. We’ll start with a Networking Event on the evening of September 3, 2025. Dive into genomic data science and cloud computing with scientific talks, poster sessions, and CoFest!