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Harriet Dashnow
@hdashnow.bsky.social
Asst. Prof, CU Biomedical Informatics. #RareDisease #Genomics #STRs #WomenInSTEM. Parent. Aussie. she/her Views my own. dashnowlab.org/ Img by familydestinationsguide.com (CC-BY)
149 followers150 following13 posts
HDhdashnow.bsky.social

Our paper was published today in Nature Biotech! www.nature.com/articles/s41... Tandem Repeat Genotyping Tool (TRGT) is a new method for genotyping tandem repeats in PacBio HiFi long reads. We used some nice algorithmic strategies to improve genotyping accuracy. 🖥️ 🧬

Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology
Characterization and visualization of tandem repeats at genome scale - Nature Biotechnology

A set of tools maps tandem repeats across complete genomes.

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HDhdashnow.bsky.social

TRGT reports full sequence alleles, including repeat interruptions and motif diversity. We found some fascinating motif heterogeneity at the RFC1 CANVAS locus in HPRC.

a, An HMM representing the population structure of the RFC1 TR derived from a priori known motifs. b, A TRVZ plot depicting both alleles of the RFC1 repeat in the HG04228 sample. c, A heat map depicting the span of each motif (columns) on each allele (rows); each cluster of alleles is associated with the color of its dominant motif. d, An example allele from each cluster. e, Lengths of alleles belonging to each cluster.
1
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HD
Harriet Dashnow
@hdashnow.bsky.social
Asst. Prof, CU Biomedical Informatics. #RareDisease #Genomics #STRs #WomenInSTEM. Parent. Aussie. she/her Views my own. dashnowlab.org/ Img by familydestinationsguide.com (CC-BY)
149 followers150 following13 posts
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