Grace Tiao

Oct 31, 2024 | biorxiv.org | Elizabeth Atkinson |Michael Wilson |Grace Tiao |Pragati Kore

AbstractThe Genome Aggregation Database (gnomAD) has been an invaluable resource for the genomics community, quantifying allele frequencies across multiple genetic ancestry groups. However, traditional gnomAD allele frequencies report aggregate estimates, overlooking fine-scale genetic differences. This can skew allele frequency estimates, particularly in recently admixed populations, and potentially lead to clinically relevant misinterpretations in underrepresented groups.

May 8, 2023 | biorxiv.org | Ben Weisburd |Grace Tiao |Heidi Rehm

New Results doi: https://doi.org/10.1101/2023.05.05.539588 AbstractTools for genotyping tandem repeats (TRs) from short read sequencing data have improved significantly over the past decade. Extensive comparisons of these tools to gold standard diagnostic methods like RP-PCR have confirmed their accuracy for tens to hundreds of well-studied loci.