Using NextGen sequencing to identify the molecular basis for genetic disease: an evolutionary perspective
In this review, I consider how genetic diseases are related to the evolution of humans and the importance of understanding the results from NextGen sequencing projects in this context. Genome wide association studies (GWAS) were predicated on the assumption that genetic disease was caused by many sm...
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| Veröffentlicht in: | Methods in next generation sequencing 2012-11, Vol.1 (1) |
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| creator | Norgren Jr, Robert B. |
| description | In this review, I consider how genetic diseases are related to the evolution
of humans and the importance of understanding the results from
NextGen sequencing projects in this context. Genome wide association
studies (GWAS) were predicated on the assumption that genetic disease
was caused by many small effect variations found in large numbers
of individuals. However, NextGen sequencing has demonstrated that
many disease-causing mutations have a large effect and occur only
within restricted populations, families or even individuals. The frequency
with which specific types of mutations occur, their effect size and their
distribution within the human population is currently an area of active
research in genetics. A greater appreciation of human evolutionary history
will allow us to design more informative studies to address these questions
and properly interpret their results. |
| doi_str_mv | 10.2478/mngs-2012-0001 |
| format | Article |
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of humans and the importance of understanding the results from
NextGen sequencing projects in this context. Genome wide association
studies (GWAS) were predicated on the assumption that genetic disease
was caused by many small effect variations found in large numbers
of individuals. However, NextGen sequencing has demonstrated that
many disease-causing mutations have a large effect and occur only
within restricted populations, families or even individuals. The frequency
with which specific types of mutations occur, their effect size and their
distribution within the human population is currently an area of active
research in genetics. A greater appreciation of human evolutionary history
will allow us to design more informative studies to address these questions
and properly interpret their results.</description><identifier>ISSN: 2084-7173</identifier><identifier>EISSN: 2084-7173</identifier><identifier>DOI: 10.2478/mngs-2012-0001</identifier><language>eng</language><publisher>De Gruyter Open</publisher><subject>Comparative genomics ; Evolution ; Genetic diseases ; Genetic variation ; High-throughput Dna sequencing ; Mutation</subject><ispartof>Methods in next generation sequencing, 2012-11, Vol.1 (1)</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c1331-64d96a6ff44e21627ed2e61744db9d0809953fb698629672a917a8609b66c0fa3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids></links><search><creatorcontrib>Norgren Jr, Robert B.</creatorcontrib><title>Using NextGen sequencing to identify the molecular basis for genetic disease: an evolutionary perspective</title><title>Methods in next generation sequencing</title><description>In this review, I consider how genetic diseases are related to the evolution
of humans and the importance of understanding the results from
NextGen sequencing projects in this context. Genome wide association
studies (GWAS) were predicated on the assumption that genetic disease
was caused by many small effect variations found in large numbers
of individuals. However, NextGen sequencing has demonstrated that
many disease-causing mutations have a large effect and occur only
within restricted populations, families or even individuals. The frequency
with which specific types of mutations occur, their effect size and their
distribution within the human population is currently an area of active
research in genetics. A greater appreciation of human evolutionary history
will allow us to design more informative studies to address these questions
and properly interpret their results.</description><subject>Comparative genomics</subject><subject>Evolution</subject><subject>Genetic diseases</subject><subject>Genetic variation</subject><subject>High-throughput Dna sequencing</subject><subject>Mutation</subject><issn>2084-7173</issn><issn>2084-7173</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><recordid>eNp1kLFOwzAQhi0EEhV0ZfYLpNiOsWM2VEFBqmChs-U45-AqdYrtFPr2JCoDC9P9Ot13-vUhdEPJgnFZ3e5CmwpGKCsIIfQMzRipeCGpLM__5Es0T2k7XQghy4rOkN8kH1r8Ct95BQEn-Bwg2GmVe-wbCNm7I84fgHd9B3boTMS1ST5h10fcQoDsLW58ApPgHpuA4dB3Q_Z9MPGI9xDTHmz2B7hGF850Cea_8wptnh7fl8_F-m31snxYF5aWJS0Eb5QwwjnOgVHBJDQMBJWcN7VqSEWUuitdLVQlmBKSGUWlqQRRtRCWOFNeocXpr419ShGc3ke_G8toSvTkSk-u9ORKTyZGoDoBX6bLEBto43Acg972Qwxj1X9ASssfmSBxQA</recordid><startdate>20121121</startdate><enddate>20121121</enddate><creator>Norgren Jr, Robert B.</creator><general>De Gruyter Open</general><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20121121</creationdate><title>Using NextGen sequencing to identify the molecular basis for genetic disease: an evolutionary perspective</title><author>Norgren Jr, Robert B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c1331-64d96a6ff44e21627ed2e61744db9d0809953fb698629672a917a8609b66c0fa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Comparative genomics</topic><topic>Evolution</topic><topic>Genetic diseases</topic><topic>Genetic variation</topic><topic>High-throughput Dna sequencing</topic><topic>Mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Norgren Jr, Robert B.</creatorcontrib><collection>CrossRef</collection><jtitle>Methods in next generation sequencing</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Norgren Jr, Robert B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Using NextGen sequencing to identify the molecular basis for genetic disease: an evolutionary perspective</atitle><jtitle>Methods in next generation sequencing</jtitle><date>2012-11-21</date><risdate>2012</risdate><volume>1</volume><issue>1</issue><issn>2084-7173</issn><eissn>2084-7173</eissn><abstract>In this review, I consider how genetic diseases are related to the evolution
of humans and the importance of understanding the results from
NextGen sequencing projects in this context. Genome wide association
studies (GWAS) were predicated on the assumption that genetic disease
was caused by many small effect variations found in large numbers
of individuals. However, NextGen sequencing has demonstrated that
many disease-causing mutations have a large effect and occur only
within restricted populations, families or even individuals. The frequency
with which specific types of mutations occur, their effect size and their
distribution within the human population is currently an area of active
research in genetics. A greater appreciation of human evolutionary history
will allow us to design more informative studies to address these questions
and properly interpret their results.</abstract><pub>De Gruyter Open</pub><doi>10.2478/mngs-2012-0001</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2084-7173 |
| ispartof | Methods in next generation sequencing, 2012-11, Vol.1 (1) |
| issn | 2084-7173 2084-7173 |
| language | eng |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Comparative genomics Evolution Genetic diseases Genetic variation High-throughput Dna sequencing Mutation |
| title | Using NextGen sequencing to identify the molecular basis for genetic disease: an evolutionary perspective |
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