Ryan Collins
@RyanLCollins13Avid genome spelunker | Postdoc @VanAllenLab at @DanaFarber | PhD '22 @HarvardMed, @talkowskilab at @CGM_MGH, @BroadInstitute | AB @dartmouth ‘13
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🚨🔊Interested in structural variants? Genome sequencing? Pediatric cancers? Germline variants+cancer risk? Rare variants+rare diseases? If so (or even if not!), I'm delighted to share the first paper from my postdoc @VanAllenLab @DanaFarber: biorxiv.org/content/10.110… 1/12
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…
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
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…
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…
Yet again--to nobody's surprise--@JShendure & 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!
Multiplex generation and single cell analysis of structural variants in a mammalian genome biorxiv.org/cgi/content/sh… #biorxiv_genomic
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🧵
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.
Joint postdoc opportunity with @MarkELindsay and me based @broadinstitute! Come join us!
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