Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process
Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequen...
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doaj-3bb147a0b4944709a43150ca6f2406792020-11-24T22:22:40ZengHindawi LimitedBioMed Research International2314-61332314-61412015-01-01201510.1155/2015/923491923491Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole ProcessA. Mesut Erzurumluoglu0Santiago Rodriguez1Hashem A. Shihab2Denis Baird3Tom G. Richardson4Ian N. M. Day5Tom R. Gaunt6Bristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKBristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKMRC Integrative Epidemiology Unit (IEU), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKBristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKBristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKBristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKBristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UKRecent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to analyse the genetic basis of human disorders. Another point to consider that is although many possess “just enough” knowledge to analyse their data, they do not make full use of the tools and databases that are available and also do not fully understand how their data was created. The primary aim of this review is to document some of the key approaches and provide an analysis schema to make the analysis process more efficient and reliable in the context of discovering highly penetrant causal mutations/genes. This review will also compare the methods used to identify highly penetrant variants when data is obtained from consanguineous individuals as opposed to nonconsanguineous; and when Mendelian disorders are analysed as opposed to common-complex disorders.http://dx.doi.org/10.1155/2015/923491 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
A. Mesut Erzurumluoglu Santiago Rodriguez Hashem A. Shihab Denis Baird Tom G. Richardson Ian N. M. Day Tom R. Gaunt |
spellingShingle |
A. Mesut Erzurumluoglu Santiago Rodriguez Hashem A. Shihab Denis Baird Tom G. Richardson Ian N. M. Day Tom R. Gaunt Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process BioMed Research International |
author_facet |
A. Mesut Erzurumluoglu Santiago Rodriguez Hashem A. Shihab Denis Baird Tom G. Richardson Ian N. M. Day Tom R. Gaunt |
author_sort |
A. Mesut Erzurumluoglu |
title |
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process |
title_short |
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process |
title_full |
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process |
title_fullStr |
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process |
title_full_unstemmed |
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process |
title_sort |
identifying highly penetrant disease causal mutations using next generation sequencing: guide to whole process |
publisher |
Hindawi Limited |
series |
BioMed Research International |
issn |
2314-6133 2314-6141 |
publishDate |
2015-01-01 |
description |
Recent technological advances have created challenges for geneticists and a need to adapt to a wide range of new bioinformatics tools and an expanding wealth of publicly available data (e.g., mutation databases, and software). This wide range of methods and a diversity of file formats used in sequence analysis is a significant issue, with a considerable amount of time spent before anyone can even attempt to analyse the genetic basis of human disorders. Another point to consider that is although many possess “just enough” knowledge to analyse their data, they do not make full use of the tools and databases that are available and also do not fully understand how their data was created. The primary aim of this review is to document some of the key approaches and provide an analysis schema to make the analysis process more efficient and reliable in the context of discovering highly penetrant causal mutations/genes. This review will also compare the methods used to identify highly penetrant variants when data is obtained from consanguineous individuals as opposed to nonconsanguineous; and when Mendelian disorders are analysed as opposed to common-complex disorders. |
url |
http://dx.doi.org/10.1155/2015/923491 |
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