Using Hidden Markov Models to Detect Introgression in Baltic Ringed Seal

Ringed seals (Pusa hispida) and grey seals (Halichoerus grypus) are known to have hybridized in captivity despite belonging to different taxonomic genera. Earlier genetic analyses have indicated hybridization in the wild and the resulting introgression of genetic material cross species boundaries co...

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Bibliographic Details
Main Author: Ba, Yue
Other Authors: Helsingin yliopisto, Matemaattis-luonnontieteellinen tiedekunta, University of Helsinki, Faculty of Science, Helsingfors universitet, Matematisk-naturvetenskapliga fakulteten
Format: Master Thesis
Language:English
Published: Helsingin yliopisto 2021
Subjects:
Online Access:http://hdl.handle.net/10138/330693
Description
Summary:Ringed seals (Pusa hispida) and grey seals (Halichoerus grypus) are known to have hybridized in captivity despite belonging to different taxonomic genera. Earlier genetic analyses have indicated hybridization in the wild and the resulting introgression of genetic material cross species boundaries could potentially explain the intermediate phenotypes observed e.g. in their dentition. Introgression can be detected using genome data, but existing inference methods typically require phased genotype data or cannot separate heterozygous and homozygous introgression tracts. In my thesis, I will present a method based on Hidden Markov Models (HMM) to identify genomic regions with a high density of single nucleotide variants (SNVs) of foreign ancestry. Unlike other methods, my method can use unphased genotype data and can separate heterozygous and homozygous introgression tracts. I will apply this method to study introgression in Baltic ringed seals and grey seals. I will compare our method to an alternative method and assess our method with simulated data in terms of precision and recall. Then, I will apply it to seal data to search for introgression. Finally, I will discuss what future directions to improve our method.