Haplotype variation and haplotype linkage disequilibrium in 313 human genes

J. C. Stephens; J. A. Schneider; D. A. Tanguay; J. Choi; T. Acharya; S. E. Stanley; R. Jiang; C. J. Messer; A. Chew; J. H. Han; J. Duan; J. L. Carr; Seob Lee Min Seob Lee; B. Koshy; A. M. Kumar; G. Zhang; W. R. Newell; A. Windemuth; C. Xu; T. S. Kalbfleisch; S. L. Shaner; K. Arnold; V. Schulz; C. M. Drysdale; K. Nandabalan; R. S. Judson; G. Ruaño; G. F. Vovis

doi:10.1126/science.1059431

Haplotype variation and haplotype linkage disequilibrium in 313 human genes

J. C. Stephens, J. A. Schneider, D. A. Tanguay, J. Choi, T. Acharya, S. E. Stanley, R. Jiang, C. J. Messer, A. Chew, J. H. Han, J. Duan, J. L. Carr, Seob Lee Min Seob Lee, B. Koshy, A. M. Kumar, G. Zhang, W. R. Newell, A. Windemuth, C. Xu, T. S. KalbfleischS. L. Shaner, K. Arnold, V. Schulz, C. M. Drysdale, K. Nandabalan, R. S. Judson, G. Ruaño, G. F. Vovis

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Abstract

Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

Original language	English
Pages (from-to)	489-493
Number of pages	5
Journal	Science
Volume	293
Issue number	5529
DOIs	https://doi.org/10.1126/science.1059431
State	Published - Jul 20 2001

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Stephens, J. C., Schneider, J. A., Tanguay, D. A., Choi, J., Acharya, T., Stanley, S. E., Jiang, R., Messer, C. J., Chew, A., Han, J. H., Duan, J., Carr, J. L., Min Seob Lee, S. L., Koshy, B., Kumar, A. M., Zhang, G., Newell, W. R., Windemuth, A., Xu, C., ... Vovis, G. F. (2001). Haplotype variation and haplotype linkage disequilibrium in 313 human genes. Science, 293(5529), 489-493. https://doi.org/10.1126/science.1059431

@article{8fcaab3b99034a42b338f429fdd1b559,

title = "Haplotype variation and haplotype linkage disequilibrium in 313 human genes",

abstract = "Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.",

author = "Stephens, {J. C.} and Schneider, {J. A.} and Tanguay, {D. A.} and J. Choi and T. Acharya and Stanley, {S. E.} and R. Jiang and Messer, {C. J.} and A. Chew and Han, {J. H.} and J. Duan and Carr, {J. L.} and {Min Seob Lee}, {Seob Lee} and B. Koshy and Kumar, {A. M.} and G. Zhang and Newell, {W. R.} and A. Windemuth and C. Xu and Kalbfleisch, {T. S.} and Shaner, {S. L.} and K. Arnold and V. Schulz and Drysdale, {C. M.} and K. Nandabalan and Judson, {R. S.} and G. Rua{\~n}o and Vovis, {G. F.}",

year = "2001",

month = jul,

day = "20",

doi = "10.1126/science.1059431",

language = "English",

volume = "293",

pages = "489--493",

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Stephens, JC, Schneider, JA, Tanguay, DA, Choi, J, Acharya, T, Stanley, SE, Jiang, R, Messer, CJ, Chew, A, Han, JH, Duan, J, Carr, JL, Min Seob Lee, SL, Koshy, B, Kumar, AM, Zhang, G, Newell, WR, Windemuth, A, Xu, C, Kalbfleisch, TS, Shaner, SL, Arnold, K, Schulz, V, Drysdale, CM, Nandabalan, K, Judson, RS, Ruaño, G & Vovis, GF 2001, 'Haplotype variation and haplotype linkage disequilibrium in 313 human genes', Science, vol. 293, no. 5529, pp. 489-493. https://doi.org/10.1126/science.1059431

TY - JOUR

T1 - Haplotype variation and haplotype linkage disequilibrium in 313 human genes

AU - Stephens, J. C.

AU - Schneider, J. A.

AU - Tanguay, D. A.

AU - Choi, J.

AU - Acharya, T.

AU - Stanley, S. E.

AU - Jiang, R.

AU - Messer, C. J.

AU - Chew, A.

AU - Han, J. H.

AU - Duan, J.

AU - Carr, J. L.

AU - Min Seob Lee, Seob Lee

AU - Koshy, B.

AU - Kumar, A. M.

AU - Zhang, G.

AU - Newell, W. R.

AU - Windemuth, A.

AU - Xu, C.

AU - Kalbfleisch, T. S.

AU - Shaner, S. L.

AU - Arnold, K.

AU - Schulz, V.

AU - Drysdale, C. M.

AU - Nandabalan, K.

AU - Judson, R. S.

AU - Ruaño, G.

AU - Vovis, G. F.

PY - 2001/7/20

Y1 - 2001/7/20

N2 - Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

AB - Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.

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U2 - 10.1126/science.1059431

DO - 10.1126/science.1059431

M3 - Article

C2 - 11452081

AN - SCOPUS:0035919656

SN - 0036-8075

VL - 293

SP - 489

EP - 493

JO - Science

JF - Science

IS - 5529

ER -

Haplotype variation and haplotype linkage disequilibrium in 313 human genes

Abstract

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