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Sökning: onr:"swepub:oai:research.chalmers.se:c928f4d7-f16d-436b-9f8b-6e32316116f5" > A geographically ma...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007949naa a2200661 4500
001oai:research.chalmers.se:c928f4d7-f16d-436b-9f8b-6e32316116f5
003SwePub
008190411s2019 | |||||||||||000 ||eng|
009oai:DiVA.org:umu-158021
009oai:DiVA.org:uu-381576
0247 a https://research.chalmers.se/publication/5100802 URI
0247 a https://doi.org/10.1371/journal.pone.02133502 DOI
0247 a https://research.chalmers.se/publication/5096682 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1580212 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3815762 URI
040 a (SwePub)cthd (SwePub)umud (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Rentoft, Matildau Umeå universitet,Institutionen för medicinsk kemi och biofysik,Kemiska institutionen,Umeå University,Umea Univ, Dept Med Biochem & Biophys, Umea, Sweden;Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden4 aut0 (Swepub:umu)maaret01
2451 0a A geographically matched control population efficiently limits the number of candidate disease-causing variants in an unbiased whole-genome analysis
264 c 2019-03-27
264 1b Public Library of Science (PLoS),c 2019
338 a electronic2 rdacarrier
520 a Whole-genome sequencing is a promising approach for human autosomal dominant disease studies. However, the vast number of genetic variants observed by this method constitutes a challenge when trying to identify the causal variants. This is often handled by restricting disease studies to the most damaging variants, e. g. those found in coding regions, and overlooking the remaining genetic variation. Such a biased approach explains in part why the genetic causes of many families with dominantly inherited diseases, in spite of being included in whole-genome sequencing studies, are left unsolved today. Here we explore the use of a geographically matched control population to minimize the number of candidate disease-causing variants without excluding variants based on assumptions on genomic position or functional predictions. To exemplify the benefit of the geographically matched control population we apply a typical disease variant filtering strategy in a family with an autosomal dominant form of colorectal cancer. With the use of the geographically matched control population we end up with 26 candidate variants genome wide. This is in contrast to the tens of thousands of candidates left when only making use of available public variant datasets. The effect of the local control population is dual, it (1) reduces the total number of candidate variants shared between affected individuals, and more importantly (2) increases the rate by which the number of candidate variants are reduced as additional affected family members are included in the filtering strategy. We demonstrate that the application of a geographically matched control population effectively limits the number of candidate disease-causing variants and may provide the means by which variants suitable for functional studies are identified genome wide.
650 7a NATURVETENSKAPx Biologix Evolutionsbiologi0 (SwePub)106152 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Evolutionary Biology0 (SwePub)106152 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng
7001 a Svensson, Danielu Umeå universitet,Kemiska institutionen,Umeå University,Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden4 aut0 (Swepub:umu)dasw0002
7001 a Sjödin, Andreas,d 1976-u Umeå universitet,Kemiska institutionen,Division of CBRN Security and Defence, FOI–Swedish Defence Research Agency, SE Umeå, Sweden,Totalförsvarets forskningsinstitut (FOI),Swedish Defence Research Agency (FOI),Umeå University,Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden;FOI Swedish Def Res Agcy, Div CBRN Secur & Def, Umea, Sweden4 aut0 (Swepub:umu)anssjn96
7001 a Olason, Pall I.u Uppsala universitet,Institutionen för cell- och molekylärbiologi,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)palol405
7001 a Sjöström, Olleu Umeå universitet,Onkologi,Unit of research, education and development, Region Jämtland Härjedalen, SE Östersund, Sweden,Umeå University,Umea Univ, Dept Radiat Sci, Oncol, Umea, Sweden;Unit Res Educ & Dev, Ostersund, Region Jamtland, Sweden4 aut0 (Swepub:umu)olsj0002
7001 a Nylander, Carinu Umeå universitet,Onkologi,Umeå University,Umea Univ, Dept Radiat Sci, Oncol, Umea, Sweden4 aut
7001 a Osterman, Piau Umeå universitet,Institutionen för medicinsk kemi och biofysik,Umeå University,Umea Univ, Dept Med Biochem & Biophys, Umea, Sweden4 aut0 (Swepub:umu)pios0001
7001 a Sjögren, Rickardu Umeå universitet,Kemiska institutionen,Umeå University,Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden4 aut0 (Swepub:umu)risj0005
7001 a Netotea, Sergiu,d 1979u Umeå universitet,Kemiska institutionen,Science for Life Laboratory, Department of Biology and Biological Engineering, Chalmers University of Technology, SE Göteborg, Sweden,Chalmers tekniska högskola,Chalmers University of Technology,Umeå University,Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden;Chalmers Univ Technol, Dept Biol & Biol Engn, Sci Life Lab, Gothenburg, Sweden4 aut0 (Swepub:umu)sene0006
7001 a Wibom, Carlu Umeå universitet,Onkologi,Umeå University,Umea Univ, Dept Radiat Sci, Oncol, Umea, Sweden4 aut0 (Swepub:umu)caewim02
7001 a Cederquist, Kristinau Umeå universitet,Medicinsk och klinisk genetik,Umeå University,Umea Univ, Dept Med Biosci Med & Clin Genet, Umea, Sweden4 aut0 (Swepub:umu)krce0002
7001 a Chabes, Andrei,c Professoru Umeå universitet,Institutionen för medicinsk kemi och biofysik,Umeå University,Umea Univ, Dept Med Biochem & Biophys, Umea, Sweden4 aut0 (Swepub:umu)anch0002
7001 a Trygg, Johanu Umeå universitet,Kemiska institutionen,Umeå University,Umea Univ, Dept Chem, Computat Life Sci Cluster, Umea, Sweden4 aut0 (Swepub:umu)jotr0001
7001 a Melin, Beatrice S.u Umeå universitet,Onkologi,Umeå University,Umea Univ, Dept Radiat Sci, Oncol, Umea, Sweden4 aut0 (Swepub:umu)bema0010
7001 a Johansson, Eriku Umeå universitet,Institutionen för medicinsk kemi och biofysik,Umeå University,Umea Univ, Dept Med Biochem & Biophys, Umea, Sweden4 aut0 (Swepub:umu)erjo0002
7102 a Umeå universitetb Institutionen för medicinsk kemi och biofysik4 org
7730 t PLoS ONEd : Public Library of Science (PLoS)g 14:3q 14:3x 1932-6203x 1932-6203
8564 u https://research.chalmers.se/publication/510080/file/510080_Fulltext.pdfx primaryx freey FULLTEXT
8564 u https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0213350&type=printable
8564 u https://doi.org/10.1371/journal.pone.0213350y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1303766/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://uu.diva-portal.org/smash/get/diva2:1304621/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://research.chalmers.se/publication/510080
8564 8u https://doi.org/10.1371/journal.pone.0213350
8564 8u https://research.chalmers.se/publication/509668
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-158021
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-381576

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