SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:lup.lub.lu.se:b2639d36-4b1b-46e6-bc3f-47a4145205e5"
 

Sökning: onr:"swepub:oai:lup.lub.lu.se:b2639d36-4b1b-46e6-bc3f-47a4145205e5" > Simulation of Finni...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003784naa a2200481 4500
001oai:lup.lub.lu.se:b2639d36-4b1b-46e6-bc3f-47a4145205e5
003SwePub
008190121s2014 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/b2639d36-4b1b-46e6-bc3f-47a4145205e52 URI
0247 a https://doi.org/10.1016/j.ajhg.2014.03.0192 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Wang, Sophie Ru Harvard Medical School4 aut
2451 0a Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland
264 1b Elsevier BV,c 2014
300 a 11 s.
520 a Finnish samples have been extensively utilized in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more recently in genome-wide association studies of complex traits, where the founder effect has had less obvious impacts. As the field starts to explore rare variants' contribution to polygenic traits, it is of great importance to characterize and confirm the Finnish founder effect in sequencing data and to assess its implications for rare-variant association studies. Here, we employ forward simulation, guided by empirical deep resequencing data, to model the genetic architecture of quantitative polygenic traits in both the general European and the Finnish populations simultaneously. We demonstrate that power of rare-variant association tests is higher in the Finnish population, especially when variants' phenotypic effects are tightly coupled with fitness effects and therefore reflect a greater contribution of rarer variants. SKAT-O, variable-threshold tests, and single-variant tests are more powerful than other rare-variant methods in the Finnish population across a range of genetic models. We also compare the relative power and efficiency of exome array genotyping to those of high-coverage exome sequencing. At a fixed cost, less expensive genotyping strategies have far greater power than sequencing; in a fixed number of samples, however, genotyping arrays miss a substantial portion of genetic signals detected in sequencing, even in the Finnish founder population. As genetic studies probe sequence variation at greater depth in more diverse populations, our simulation approach provides a framework for evaluating various study designs for gene discovery.
653 a Computer Simulation
653 a Diabetes Mellitus, Type 2/genetics
653 a European Continental Ancestry Group/genetics
653 a Exome/genetics
653 a Finland
653 a Founder Effect
653 a Humans
653 a Models, Genetic
653 a Multifactorial Inheritance/genetics
653 a Population/genetics
7001 a Agarwala, Vineetau Broad Institute4 aut
7001 a Flannick, Jasonu Broad Institute4 aut
7001 a Chiang, Charleston W K4 aut
7001 a Altshuler, David4 aut
7001 a Hirschhorn, Joel N4 aut
7001 a Kravic, Jasminau Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups4 cre0 (Swepub:lu)med-jik
7102 a Harvard Medical Schoolb Broad Institute4 org
7102 a GoT2D Consortium
7730 t American Journal of Human Geneticsd : Elsevier BVg 94:5, s. 20-710q 94:5<20-710x 0002-9297
8564 u http://dx.doi.org/10.1016/j.ajhg.2014.03.019y FULLTEXT
8564 u http://www.cell.com/article/S0002929714001517/pdf
8564 8u https://lup.lub.lu.se/record/b2639d36-4b1b-46e6-bc3f-47a4145205e5
8564 8u https://doi.org/10.1016/j.ajhg.2014.03.019

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy