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...
| Publicado en: | BioMed Research International Vol. 2015; pp. 1 - 17 |
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| Autores principales: | , , , , , , |
| Formato: | algorithm review tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
5/3/2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109274116&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109274116 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 5/3/2015 vid: 2015 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 109274116 109274116 109274116 10.1155/2015/923491 109274116 ppf: 1 ppct: 16 formats: fmt: @attributes: type: P tig: atl: Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. aug: au: Erzurumluoglu, A. Mesut Rodriguez, Santiago Shihab, Hashem A. Baird, Denis Richardson, Tom G. Day, Ian N. M. Gaunt, Tom R. affil: Bristol Genetic Epidemiology Laboratories (BGEL), School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK sug: subj: Genes Mutation Genetic Techniques Genomics Chromosome Disorders DNA Sequence Analysis Bioinformatics Consanguinity Algorithms Pedigree ab: 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. pubtype: Academic Journal doctype: algorithm review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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