Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Davis Auditorium Hybrid

6 July 2021

superSTR: alignment-free repeat screening in genomic and transcriptomic short-read sequencing data at scale

Liam Fearnley
WEHI Population Health & Immunity

Existing bioinformatic methods for the detection of repeat expansions in short-read sequencing rely on alignment of genomic reads to a reference genome. This information is the primary method used to identify the relatively few reads that describe repeat expansions for further downstream analysis. superSTR is an alignment-free method designed for the problem of repeat expansion detection and screening in short-read sequencing. In this talk I will describe superSTR, discuss its theoretical underpinnings, and outline its application to screening of repeat expansions in genomic and transcriptomic data in patient cohorts and population-scale biobanks.

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