@article{8e0e974040754eb8b5468dc035763180,
title = "High-density single-nucleotide polymorphism maps of the human genome",
abstract = "Here we report a large, extensively characterized set of single-nucleotide polymorphisms (SNPs) covering the human genome. We determined the allele frequencies of 55,018 SNPs in African Americans, Asians (Japanese-Chinese), and European Americans as part of The SNP Consortium's Allele Frequency Project. A subset of 8333 SNPs was also characterized in Koreans. Because these SNPs were ascertained in the same way, the data set is particularly useful for modeling. Our results document that much genetic variation is shared among populations. For autosomes, some 44% of these SNPs have a minor allele frequency ≥10% in each population, and the average allele frequency differences between populations with different continental origins are less than 19%. However, the several percentage point allele frequency differences among the closely related Korean, Japanese, and Chinese populations suggest caution in using mixtures of well-established populations for case-control genetic studies of complex traits. We estimate that ∼7% of these SNPs are private SNPs with minor allele frequencies <1%. A useful set of characterized SNPs with large allele frequency differences between populations (>60%) can be used for admixture studies. High-density maps of high-quality, characterized SNPs produced by this project are freely available.",
keywords = "Complex disease variation search, Human variation, Korean population, Pooled sequencing, SNP, Single-base primer extension, The SNP Consortium",
author = "Miller, {Raymond D.} and Phillips, {Michael S.} and Inho Jo and Donaldson, {Miriam A.} and Studebaker, {Joel F.} and Nicholas Addleman and Alfisi, {Steven V.} and Ankener, {Wendy M.} and Bhatti, {Hamid A.} and Callahan, {Chad E.} and Carey, {Benjamin J.} and Conley, {Cheryl L.} and Cyr, {Justin M.} and Vram Derohannessian and Donaldson, {Rachel A.} and Carolina Elosua and Ford, {Stacey E.} and Forman, {Angela M.} and Gelfand, {Craig A.} and Grecco, {Nicole M.} and Gutendorf, {Susan M.} and Hock, {Cricket R.} and Hozza, {Mark J.} and Soyoung Hur and Sun, {Mi In} and Jackson, {Diana L.} and Sangmee, {Ahn Jo} and Jung, {Sung Chul} and Sook Kim and Kuchan Kimm and Kloss, {Ellen F.} and Koboldt, {Daniel C.} and Kuebler, {Jennifer M.} and Kuo, {Feng Shen} and Lathrop, {Jessica A.} and Lee, {Jong Keuk} and Leis, {Kathy L.} and Livingston, {Stephanie A.} and Lovins, {Elizabeth G.} and Lundy, {Maria L.} and Sima Maggan and Matthew Minton and Mockler, {Michael A.} and Morris, {David W.} and Nachtman, {Eric P.} and Bermseok Oh and Chan Park and Park, {Chang Wook} and Nicholas Pavelka and Perkins, {Adrienne B.} and Restine, {Stephanie L.} and Ravi Sachidanandam and Reinhart, {Andrew J.} and Scott, {Kathryn E.} and Shah, {Gira J.} and Tate, {Jatana M.} and Varde, {Shobha A.} and Amy Walters and White, {J. Rebecca} and Yoo, {Yeon Kyeong} and Lee, {Jong Eun} and Boyce-Jacino, {Michael T.} and Kwok, {Pui Yan}",
note = "Funding Information: We are grateful for the contributions of Dr. Patrick K. Bender, Ms. Betsy Messina, and Dr. Lorraine H. Toji, at the Coriell Institute of Medical Research (Camden, NJ, USA), for their guidance and assistance in the assembly of the TSC DNA allele frequency panels. We also acknowledge the assistance of Dr. Mat Petersen from the American Diabetes Association, for allowing us to use samples from the ADA collection to build the TSC panels. We also thank James Marcella, Jack Ball, Felicia Watson, and Robert Tomacelli for their advice and guidance during the development of the project at Orchid. This study was supported in part by IMT-2000 Grant (01-PJ11-PG9-01BT05–0003) from the Korean Ministries of Health and Welfare and Information and Communication. This work is funded in part by The SNP Consortium and by the NHGRI (HG1720 to P.Y.K.). ",
year = "2005",
month = aug,
doi = "10.1016/j.ygeno.2005.04.012",
language = "English",
volume = "86",
pages = "117--126",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "2",
}