Browsing by Subject "whole genome sequencing"
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Developing pedigree-based strategies to analyse whole genome sequencing data for complex disorders: learning from schizophrenia
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2023)Complex genetic disorders are impacted by a range of DNA variation. Next generation sequencing (NGS) allows for the direct examination of this variation, but large sample numbers are required to identify rare variants in ... -
Exploring the Genetics of Unresolved Inherited Retinal Diseases in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)The Target 5000 study was established in 2009 with a primary goal to develop a national care pathway for inherited retinal disease patients in Ireland. Participants first undergo a clinical assessment, which includes ...