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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

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.
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HDhdashnow.bsky.social

TRGT also reports methylation. Here’s a nice analysis of the FMR1 Fragile X locus.

a, Distribution of FMR1 allele sizes in 100 HPRC samples. b,c, TRVZ plots of FMR1 repeat in the HG04184 (b) and HG00438 (c) samples, respectively, showing premutation alleles. d, TRVZ plot of FMR1 repeat in the HG01099 male sample displaying CpG methylation. e, Distribution of median methylation levels for HG01099 reads spanning FMR1 repeat. f, Distributions of median methylation levels for FMR1 reads across all male samples. g, TRVZ plot of FMR1 repeat in HG03831 female sample displaying CpG methylation. h, Distribution of median methylation levels for HG03831 reads spanning FMR1 repeat. i, Distributions of median methylation levels for FMR1 reads across all female samples. j, Premutation repeat allele from a prefrontal cortex sample from a female donor (short allele not shown). k, Premutation repeat allele from a prefrontal cortex sample from a male donor. l, Fully expanded repeat allele from a prefrontal cortex sample from a male donor. m, Methylation profile of prefrontal cortex sa
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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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