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A reference panel of 64,976 haplotypes for genotype imputation
- Source :
- Mccarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, Van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, Mcgue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, Mcinnis, M, Richards, J B, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van Den Berg, L H, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T, De Bakker, P I W, Swertz, M A, Mccarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, Mccarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Min, J L, Soranzo, N 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283. Nature Publishing Group, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N J, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D I, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Davey Smith, G, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, McGue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, McInnis, M G, Brent Richards, J, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van den Berg, L H, van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T M, Bakker, P I W, Swertz, M A, McCarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C J, Iacono, W G, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, McCarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283, Nat. Genet. 48, 1279-1283 (2016)
- Publication Year :
- 2015
- Publisher :
- Cold Spring Harbor Laboratory, 2015.
-
Abstract
- We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs constructed using whole genome sequence data from 20 studies of predominantly European ancestry. Using this resource leads to accurate genotype imputation at minor allele frequencies as low as 0.1%, a large increase in the number of SNPs tested in association studies and can help to discover and refine causal loci. We describe remote server resources that allow researchers to carry out imputation and phasing consistently and efficiently.
- Subjects :
- 0301 basic medicine
Netherlands Twin Register (NTR)
Genotype
Population
Genome-wide association study
Single-nucleotide polymorphism
Computational biology
Biology
Polymorphism, Single Nucleotide
SEQUENCE
Article
03 medical and health sciences
0302 clinical medicine
Reference Values
Journal Article
Genetics
Humans
GENOME-WIDE ASSOCIATION
education
Alleles
POPULATION
030304 developmental biology
Genetic association
Whole genome sequencing
education.field_of_study
Internet
0303 health sciences
Genotype imputation
Medicine (all)
Haplotype
ALSPAC
Minor allele frequency
030104 developmental biology
Genetic Techniques
Haplotypes
RARE VARIANTS
030217 neurology & neurosurgery
Imputation (genetics)
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- Mccarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, Van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, Mcgue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, Mcinnis, M, Richards, J B, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van Den Berg, L H, Van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T, De Bakker, P I W, Swertz, M A, Mccarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C, Iacono, W, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, Mccarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Smith, G D, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Min, J L, Soranzo, N 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283. Nature Publishing Group, McCarthy, S, Das, S, Kretzschmar, W, Delaneau, O, Wood, A R, Teumer, A, Kang, H M, Fuchsberger, C, Danecek, P, Sharp, K, Luo, Y, Sidore, C, Kwong, A, Timpson, N J, Koskinen, S, Vrieze, S, Scott, L J, Zhang, H, Mahajan, A, Veldink, J, Peters, U, Pato, C, van Duijn, C M, Gillies, C E, Gandin, I, Mezzavilla, M, Gilly, A, Cocca, M, Traglia, M, Angius, A, Barrett, J C, Boomsma, D I, Branham, K, Breen, G, Brummett, C M, Busonero, F, Campbell, H, Chan, A, Chen, S, Chew, E, Collins, F S, Corbin, L J, Davey Smith, G, Dedoussis, G, Dorr, M, Farmaki, A-E, Ferrucci, L, Forer, L, Fraser, R M, Gabriel, S, Levy, S, Groop, L, Harrison, T, Hattersley, A, Holmen, O L, Hveem, K, Kretzler, M, Lee, J C, McGue, M, Meitinger, T, Melzer, D, Min, J L, Mohlke, K L, Vincent, J B, Nauck, M, Nickerson, D, Palotie, A, Pato, M, Pirastu, N, McInnis, M G, Brent Richards, J, Sala, C, Salomaa, V, Schlessinger, D, Schoenherr, S, Slagboom, P E, Small, K, Spector, T, Stambolian, D, Tuke, M, Tuomilehto, J, Van den Berg, L H, van Rheenen, W, Volker, U, Wijmenga, C, Toniolo, D, Zeggini, E, Gasparini, P, Sampson, M G, Wilson, J F, Frayling, T M, Bakker, P I W, Swertz, M A, McCarroll, S, Kooperberg, C, Dekker, A, Altshuler, D, Willer, C J, Iacono, W G, Ripatti, S, Soranzo, N, Walter, K, Swaroop, A, Cucca, F, Anderson, C A, Myers, R M, Boehnke, M, McCarthy, M I, Durbin, R, Abecasis, G & Marchini, J 2016, ' A reference panel of 64,976 haplotypes for genotype imputation ', Nature Genetics, vol. 48, no. 10, pp. 1279-1283 . https://doi.org/10.1038/ng.3643, Nature Genetics, 48(10), 1279-1283, Nat. Genet. 48, 1279-1283 (2016)
- Accession number :
- edsair.doi.dedup.....471c101999ca81cb0a13586083e74836