Bioinformatics Seminars

Bioinformatics Seminar

Time: 10:45am Tuesdays.
Level 7 Seminar Room 2, WEHI1

3 March 2020

High-throughput multiplexed tandem repeat genotyping using targeted long-read sequencing

Lachlan Coin
The University of Melbourne

Tandem repeats (TRs) are highly prone to variation in copy numbers due to their repetitive and unstable nature, which makes them a major source of genomic variation between individuals. However, population variation of TRs have not been widely explored due to the limitations of existing tools, which are either low-throughput or restricted to a small subset of TRs.

In this talk I will describe our work in targeted sequencing of tandem repeats using both SureSelect capture, as well as Cas9 based approaches.
I will describe bioinformatic approaches for genotyping tandem repeats using both short and long read data.

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