Joint postdoc opportunity with MarkELindsay and me based Broad Institute! Come join us!

Oops! Samtools 1.19.1 had a bug which broke filtering on unordered BED files. This is now fixed in release 1.19.2. See htslib.org/download/ for links to tarballs and release notes.

What if we could inducibly create thousands of structural variants and ecDNAs in human cells and see which ones survive? biorxiv.org/content/10.110… I’m excited to share our story on scrambling the human genome by combining prime editing, repetitive elements, and recombinases. A🧵

Yet again--to nobody's surprise--Jay Shendure & co blow several fields'-worth of minds in a single paper 🤯🤯 Remarkable combination of cool tech + important but understudied problem Tech like this will transform our understanding of how SVs impact cellular phenotypes & fitness!

We are happy to announce the release of DECIPHER dosage sensitivity tracks for human assemblies GRCh38/hg38 and GRCh37/hg19, displaying a cross-disorder dosage sensitivity map of the human genome. Learn more about this release: genome.ucsc.edu/goldenPath/new…

1/ We’re excited to share our new preprint “Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions” available on medRxiv! medrxiv.org/content/10.110…

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

Excited to share this discovery: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life, acquiring toxicity only when quite long (>150 CAGs). biorxiv.org/content/10.110…