The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia
Whole exome sequencing (WES) – the targeted sequencing of the subset of the human genome that is protein coding – is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits, some of which have proved to be intractable to conventional gene-discovery strategies....
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ndltd-bl.uk-oai-ethos.bl.uk-6318672017-02-17T03:18:58ZThe use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystoniaSheerin, U.2014Whole exome sequencing (WES) – the targeted sequencing of the subset of the human genome that is protein coding – is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits, some of which have proved to be intractable to conventional gene-discovery strategies. My PhD thesis focuses on the use of whole exome sequencing to dissect the genetic aetiologies of families with Mendelian forms of Parkinson’s disease and Dystonia. First I present a project where next generation sequencing played an important role in the identification of a novel Parkinson’s disease gene (VPS35). I then describe the use of WES in i) an autosomal dominant PD kindred, where a novel DCTN1 mutation was identified; and show a number of examples of successes and failures of WES in ii) autosomal recessive Parkinson’s disease and iii) autosomal recessive generalised dystonia.616.8University College London (University of London)http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.631867http://discovery.ucl.ac.uk/1457531/Electronic Thesis or Dissertation |
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616.8 Sheerin, U. The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
description |
Whole exome sequencing (WES) – the targeted sequencing of the subset of the human genome that is protein coding – is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits, some of which have proved to be intractable to conventional gene-discovery strategies. My PhD thesis focuses on the use of whole exome sequencing to dissect the genetic aetiologies of families with Mendelian forms of Parkinson’s disease and Dystonia. First I present a project where next generation sequencing played an important role in the identification of a novel Parkinson’s disease gene (VPS35). I then describe the use of WES in i) an autosomal dominant PD kindred, where a novel DCTN1 mutation was identified; and show a number of examples of successes and failures of WES in ii) autosomal recessive Parkinson’s disease and iii) autosomal recessive generalised dystonia. |
author |
Sheerin, U. |
author_facet |
Sheerin, U. |
author_sort |
Sheerin, U. |
title |
The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
title_short |
The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
title_full |
The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
title_fullStr |
The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
title_full_unstemmed |
The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia |
title_sort |
use of next generation sequencing technologies to dissect the aetiologies of parkinson's disease and dystonia |
publisher |
University College London (University of London) |
publishDate |
2014 |
url |
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.631867 |
work_keys_str_mv |
AT sheerinu theuseofnextgenerationsequencingtechnologiestodissecttheaetiologiesofparkinsonsdiseaseanddystonia AT sheerinu useofnextgenerationsequencingtechnologiestodissecttheaetiologiesofparkinsonsdiseaseanddystonia |
_version_ |
1718414062571749376 |