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Characterization and visualization of tandem repeats at genome scale go.nature.com/3TKX7FFView quoted post on X
Please share, job 1/4: The New York Center for Rare Diseases @NewYorkCRD is hiring a Variant Interpretation Scientist.View quoted post on X
With partners at @GeneDx, @PacBio and @GoogleHealth, we are developing advanced solutions to help diagnose patients with rare diseases.
careers.montefiore.org/job/BRONX-VARI…
Happy to introduce sawfish, a new HiFi structural variant caller emphasizing local haplotype modeling to improve SV representation and genotyping in both single and joint-sample analysis contexts: 1/nView quoted post on X
doi.org/10.1101/2024.0…
www.biorxiv.org TRGT-denovo: accurate detection of de novo tandem repeat mutations Motivation Identifying de novo tandem repeat (TR) mutations on a genome-wide scale is essential for understanding genetic variability and its implications in rare diseases. While PacBio HiFi sequen... 
