Short tandem repeat expansions in the diagnosis of rare Mendelian diseases by whole genome sequencing
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Asset Subtitle
Presenting Author - Harriet Dashnow, PhD; Co-Author - Brent Pedersen, PhD; Co-Author - Laurel Hiatt, BA; Co-Author - Aaron R. Quinlan, PhD;
Meta Tag
Bioinformatics
Genome sequencing
Genomic Methodologies
Triplet and Other Repeats
Co-Author Brent Pedersen, PhD
Co-Author Laurel Hiatt, BA
Co-Author Aaron R. Quinlan, PhD
Presenting Author Harriet Dashnow, PhD
Keywords
Novel short tandem repeats
STRs
human genome
diseases
diagnostic process
whole-genome sequencing
STRling
k-mer counts
STR expansions
pathogenic variants

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