Harriet Dashnow
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hdashnow.bsky.social
Harriet Dashnow
@hdashnow.bsky.social
Asst. Prof, CU Biomedical Informatics.
#RareDisease #Genomics #STRs #bioinformatics #WomenInSTEM. Parent. Aussie. she/her
Views my own.
https://dashnowlab.org/

Img by familydestinationsguide (CC-BY)
A huge congratulations to Laurel Hiatt on their first first-author publication from their PhD!! And thank you to all our wonderful coauthors for making this happen.
March 26, 2025 at 8:01 PM
Credit to Laurel Hiatt for driving this, @vincerubinetti.bsky.social for beautiful new website design, and Akshay Avvaru for data vis.
Thanks to the continued support of Ben Weisburd @egor-dolzhenko.bsky.social @heidirehm.bsky.social @aaronquinlan.bsky.social.
It's a pleasure working with you all!
December 12, 2024 at 8:58 PM
Thanks for doing this, @tamargurmdphd.bsky.social ! Following
November 15, 2024 at 2:49 PM
Algorithmically, I'd say some error correction may be needed, especially for long alleles and high GC repeats. It uses local SNVs, so that might be more challenging and result in read phasing errors.
This is a key obstacle: github.com/PacificBiosc... (see paragraph 3)
January 2, 2024 at 9:42 PM
Unfortunately, no. It's tuned to HiFi read specs.
January 2, 2024 at 8:12 PM
Huge congratulations to Egor Dolzhenko, Adam English, and everyone else involved. @aaronquinlan.bsky.social @meberle.bsky.social @sedlazeck.bsky.social @pacbio.bsky.social
January 2, 2024 at 5:51 PM
TRGT also reports methylation. Here’s a nice analysis of the FMR1 Fragile X locus.
January 2, 2024 at 5:49 PM
TRGT reports full sequence alleles, including repeat interruptions and motif diversity. We found some fascinating motif heterogeneity at the RFC1 CANVAS locus in HPRC.
January 2, 2024 at 5:48 PM
Thanks! I also found this handy list: docs.google.com/spreadsheets...
September 14, 2023 at 8:47 PM
Is this some emoji #hashtag magic?
September 14, 2023 at 8:25 PM