Design of association studies with pooled or un-pooled next-generation sequencing data

Su Yeon Kim, Yingrui Li, Yiran Guo, Ruiqiang Li, Johan Holmkvist, Torben Hansen, Oluf Pedersen, Jun Wang, Rasmus Nielsen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Most common hereditary diseases in humans are complex and multifactorial. Large-scale genome-wide association studies based on SNP genotyping have only identified a small fraction of the heritable variation of these diseases. One explanation may be that many rare variants (a minor allele frequency, MAF
OriginalsprogEngelsk
TidsskriftGenetic Epidemiology
Vol/bind34
Udgave nummer5
Sider (fra-til)479-91
Antal sider13
ISSN0741-0395
DOI
StatusUdgivet - 1. jul. 2010

Fingeraftryk

Genome-Wide Association Study
Single Nucleotide Polymorphism

Citer dette

Kim, Su Yeon ; Li, Yingrui ; Guo, Yiran ; Li, Ruiqiang ; Holmkvist, Johan ; Hansen, Torben ; Pedersen, Oluf ; Wang, Jun ; Nielsen, Rasmus. / Design of association studies with pooled or un-pooled next-generation sequencing data. I: Genetic Epidemiology. 2010 ; Bind 34, Nr. 5. s. 479-91.
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author = "Kim, {Su Yeon} and Yingrui Li and Yiran Guo and Ruiqiang Li and Johan Holmkvist and Torben Hansen and Oluf Pedersen and Jun Wang and Rasmus Nielsen",
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Kim, SY, Li, Y, Guo, Y, Li, R, Holmkvist, J, Hansen, T, Pedersen, O, Wang, J & Nielsen, R 2010, 'Design of association studies with pooled or un-pooled next-generation sequencing data', Genetic Epidemiology, bind 34, nr. 5, s. 479-91. https://doi.org/10.1002/gepi.20501

Design of association studies with pooled or un-pooled next-generation sequencing data. / Kim, Su Yeon; Li, Yingrui; Guo, Yiran; Li, Ruiqiang; Holmkvist, Johan; Hansen, Torben; Pedersen, Oluf; Wang, Jun; Nielsen, Rasmus.

I: Genetic Epidemiology, Bind 34, Nr. 5, 01.07.2010, s. 479-91.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Design of association studies with pooled or un-pooled next-generation sequencing data

AU - Kim, Su Yeon

AU - Li, Yingrui

AU - Guo, Yiran

AU - Li, Ruiqiang

AU - Holmkvist, Johan

AU - Hansen, Torben

AU - Pedersen, Oluf

AU - Wang, Jun

AU - Nielsen, Rasmus

N1 - (c) 2010 Wiley-Liss, Inc.

PY - 2010/7/1

Y1 - 2010/7/1

N2 - Most common hereditary diseases in humans are complex and multifactorial. Large-scale genome-wide association studies based on SNP genotyping have only identified a small fraction of the heritable variation of these diseases. One explanation may be that many rare variants (a minor allele frequency, MAF

AB - Most common hereditary diseases in humans are complex and multifactorial. Large-scale genome-wide association studies based on SNP genotyping have only identified a small fraction of the heritable variation of these diseases. One explanation may be that many rare variants (a minor allele frequency, MAF

KW - Alleles

KW - Chromosome Mapping

KW - Computer Simulation

KW - Denmark

KW - Genetic Predisposition to Disease

KW - Genetic Variation

KW - Genetics, Population

KW - Genome-Wide Association Study

KW - Genotype

KW - Humans

KW - Models, Genetic

KW - Models, Statistical

KW - Polymorphism, Single Nucleotide

KW - Research Design

KW - Sequence Analysis, DNA

U2 - 10.1002/gepi.20501

DO - 10.1002/gepi.20501

M3 - Journal article

VL - 34

SP - 479

EP - 491

JO - Genetic Epidemiology

JF - Genetic Epidemiology

SN - 0741-0395

IS - 5

ER -