Farmakogeneetilised variandid täisgenoomsetes andmetes
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2017
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Abstract
DNA sekveneerimine ehk orgaaniliste molekulide järjestamine on muutumas üha lihtsamaks ja odavamaks. See lihtsustab laiahaardeliste sekveneerimisprojektide läbiviimist, mille üheks rakenduseks on erinevate geograafiliste piirkondade inimeste geneetika võrdlemine. Farmakogeneetilisteks variantideks nimetatakse asukohti genoomis, mida on senistes teadusuuringutes suudetud seostada mõningase mõjuga ravimitoimetele. Kõigi geneetiliste, sealhulgas farmakogeneetiliste variantide eri populatsioonide sageduste vahel esineb variatsioone. Käesoleva bakalaureusetöö eesmärk on kirjeldada Eesti Geenivaramust saadud eestlaste valimis esinevaid farmakogeneetilisi variante. Antud variantide sagedusandmeid kasutatakse, et võrrelda erinevate populatsioonide omavahelist sarnasust ja erisust.
Human DNA sequencing is becoming easier and cheaper. This makes simpler conducting a wide range of sequencing projects. These can help compare genetic data from different geographical populations. Pharmacogenetic variants are genetic elements that iscientific studies have linked to effects on drug metabolisation. All genetic variants including pharmacogenetic variants show some between-population frequencies. The main aim of this bachelor’s thesis is to describe pharmacogenetic variants that appear in the Estonian population and to use pharmacogenetic variant frequencies from whole-genome sequencing data of Estonian Genome Center in order to describe similarities and differences in various populations.
Human DNA sequencing is becoming easier and cheaper. This makes simpler conducting a wide range of sequencing projects. These can help compare genetic data from different geographical populations. Pharmacogenetic variants are genetic elements that iscientific studies have linked to effects on drug metabolisation. All genetic variants including pharmacogenetic variants show some between-population frequencies. The main aim of this bachelor’s thesis is to describe pharmacogenetic variants that appear in the Estonian population and to use pharmacogenetic variant frequencies from whole-genome sequencing data of Estonian Genome Center in order to describe similarities and differences in various populations.