he/him. Geneticist & 1x programmer. Bioinformatics Scientist. I'm not here. @williamrowell.dev on bsky; @williamrowell@genomic.social; @billy@social.lol
East Bay, CA
Joined March 2007
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Billy š¹ retweeted
How can one HiFi dataset reveal multiple types of genomic variation?
The #PacBio WGS Variant Pipeline brings together tools for structural variants, repeats, phasing & methylation.
Explore the workflow and our new guide in the blog.
Read more: bit.ly/4ySMEct
Billy š¹ retweeted
New on hg38: Fiber-seq, from the Stergachis and Vollger labs. One PacBio read reports sequence, chromatin accessibility and CpG methylation together, and is long enough to phase.
See our news for more: bit.ly/ucscGBfiberseq
ALT The imprinting control region of the KCNQ1OT1 long non-coding RNA on chromosome 11, in K562. Across the highlighted region the CpGs on one haplotype are nearly all methylated and those on the other are nearly all unmethylated, and it is the unmethylated haplotype that is open. The bottom track plots the difference between the two, red where it is most significant. Loss of methylation here has been associated with Beckwith-Wiedemann syndrome.
Billy š¹ retweeted
#PacBio is heading to Seattle for #AMP2026! š§¬
Explore how HiFi sequencing helps researchers resolve complex variants, capture entire genes & reveal phasing and methylation in a single workflow.
See what's planned and explore our full program: bit.ly/4yOsOyU
