PhD defense - Snædís Kristmundsdóttir

Microsatellites; genotyping, mutation rate and effect on disease

  • 30.6.2022, 15:00 - 16:30

The PhD defense of Snædís Kristmundsdóttir will be held on Thursday June 30th at 15:00 in M208.

Title of thesis: Microsatellites; genotyping, mutation rate and effect on disease
Candidate: Snædís Kristmundsdóttir
Date and time: June 30, 2022 at 15:00
Room: M208

Link to defense

Thesis Committee:
Bjarni V. Halldórsson, Supervisor, Associate Professor, Reykjavík University
Daníel F. Guðbjartsson, Co-advisor, Research professor, University of Iceland, deCODE Genetics
Sigrún Helga Lund, Co-advisor, Research Scientist, deCODE Genetics
Eyjólfur Ingi Ásgeirsson, Co-advisor, Associate Professor, Reykjavík University

Examiner:
Melissa Gymrek, Assistant Professor, University of California San Diego, USA

Abstract

Microsatellites are polymorphic tracts of short tandem repeats (STRs) with one to
six base-pair (bp) motifs and account for around 3% of the human genome. Just like
copying by hand a text where the same word occurs many times in a row, the replication
of microsatellites is error prone and frequently adds or removes one or more copies of
the repeat motif. As a result, microsatellites mutate several orders of magnitude faster
than unique genomic sequences and for a given microsatellites, a population can have
many possible length variations. The first objective of this study was to implement
a method to jointly determine the number of repeats present at each microsatellite
in the genome for a large number of samples. The second goal was to make the
determination of repeat numbers more computationally efficient while simultaneously
increasing the detection sensitivity of heavily expanded microsatellite alleles, known
as repeat expansions. Last, the software was run on two large sets of whole genome
sequenced individuals, one from Iceland and the other from the UK biobank. Using
the genealogy information available on the Icelandic set, de novo mutation events were
detected and the effects of parental sex, age and genotypes on the types and number
of mutations found in their offspring were estimated.

Keywords: Microsatellites, Genotyping, Mutations



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