المؤلفون: Reich, David E., Goldstein, David B.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1998 Jul 01. 95(14), 8119-8123.

URL الوصول: https://www.jstor.org/stable/45712

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المؤلفون: Bonnen, Penelope E., Pe'er, Itsik, Plenge, Robert M., Salit, Jackie, Lowe, Jennifer K., Shapero, Michael H., Lifton, Richard P., Breslow, Jan L., Daly, Mark J., Reich, David E., Jones, Keith W., Stoffel, Markus, Altshuler, David, Friedman, Jeffrey M.

المصدر: Nature Genetics; Feb2006, Vol. 38 Issue 2, p214-217, 4p, 4 Graphs

مصطلحات موضوعية: GENOMES, GENOMICS, GENETICS, GENES, POPULATION, ISLANDS

مصطلحات جغرافية: ISLANDS of the Pacific, KOSRAE (Micronesia), MICRONESIA

مستخلص: Whole-genome association studies are predicted to be especially powerful in isolated populations owing to increased linkage disequilibrium (LD) and decreased allelic diversity, but this possibility has not been empirically tested. We compared genome-wide data on 113,240 SNPs typed on 30 trios from the Pacific island of Kosrae to the same markers typed in the 270 samples from the International HapMap Project. The extent of LD is longer and haplotype diversity is lower in Kosrae than in the HapMap populations. More than 98% of Kosraen haplotypes are present in HapMap populations, indicating that HapMap will be useful for genetic studies on Kosrae. The long-range LD around common alleles and limited diversity result in improved efficiency in genetic studies in this population and augments the power to detect association of 'hidden SNPs'. [ABSTRACT FROM AUTHOR]

: Copyright of Nature Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Sabeti, Pardis C., Reich, David E., Higgins, John M., Levine, Haninah Z. P., Richter, Daniel J., Schaffner, Stephen F., Gabriel, Stacey B., Platko, Jill V., Patterson, Nick J., McDonald, Gavin J., Ackerman, Hans C., Campbell, Sarah J., Altshuler, David, Cooper, Richard, Kwiatkowski, Dominic, Ward, Ryk, Lander, Eric S.

المصدر: Nature; 10/24/2002, Vol. 419 Issue 6909, p832, 6p

مصطلحات موضوعية: HUMAN genome, GENETIC mutation

مستخلص: The ability to detect recent natural selection in the human population would have profound implications for the study of human history and for medicine. Here, we introduce a framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations. We first identify haplotypes ata locus of interest (core haplotypes). We then assess the age of each core haplotype by the decay of its association to alleles at various distances from the locus, as measured by extended haplotype homozygosity (EHH). Core haplotypes that have unusually high EHH and a high population frequency indicate the presence of a mutation that rose to prominence in the human gene pool faster than expected under neutral evolution. We applied this approach to investigate selection at two genes carrying common variants implicated in resistance to malaria: G6PD[SUP 1] and CD40 ligand[SUP 2]. At both loci, the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection. More generally, the method could be used to scan the entire genome for evidence of recent positive selection. [ABSTRACT FROM AUTHOR]

: Copyright of Nature is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Reich, David E., Schaffner, Stephen F., Daly, Mark J., McVean, Gil, Mullikin, James C., Higgins, John M., Richter, Daniel J., Lander, Eric S., Altshuler, David

المصدر: Nature Genetics; Sep2002, Vol. 32 Issue 1, p135, 8p

مصطلحات موضوعية: HUMAN gene mapping, GENETIC mutation, GENETIC recombination, GENEALOGY

مستخلص: Variation in the human genome sequence is key to understanding susceptibility to disease in modern populations and the history of ancestral populations. Unlocking this information requires knowledge of the patterns and underlying causes of human sequence diversity. By applying a new population-genetic framework to two genome-wide polymorphism surveys, we find that the human genome contains sizeable regions (stretching over tens of thousands of base pairs) that have intrinsically high and low rates of sequence variation. We show that the primary determinant of these patterns is shared genealogical history. Only a fraction of the variation (at most 25%) is due to the local mutation rate. By measuring the average distance over which genealogical histories are typically preserved, these data provide the first genome-wide estimate of the average extent of correlation among variants (linkage disequilibrium). The results are best explained by extreme variability in the recombination rate at a fine scale, and provide the first empirical evidence that such recombination 'hot spots' are a general feature of the human genome and have a principal role in shaping genetic variation in the human population. [ABSTRACT FROM AUTHOR]

: Copyright of Nature Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Reich, David E., Cargill, Michele, Bolk, Stacey, Ireland, James, Sabeti, Pardis C., Richter, Daniel J., Lavery, Thomas, Kouyoumjlan, Rose, Farhadian, Shelli F., Ward, Ryk, Lander, Eric S.

المصدر: Nature; 5/10/2001, Vol. 411 Issue 6834, p199, 6p, 1 Chart, 4 Graphs

مصطلحات موضوعية: GENE mapping, GENOMICS, GENETIC polymorphisms

مصطلحات جغرافية: UNITED States

مستخلص: Provides information on an experiment which examined selected genomic regions in the United States to characterize linkage disequilibrium (LD). Use of single nucleotide polymorphisms (SNP) to characterize LD; Methodology of the study; Measurement of LD; Variability in the values of SNP; Nature of a population event that has created long-range LD.

المؤلفون: Reich, David E., Goldstein, David B.

المصدر: Genetic Epidemiology; Jan2001, Vol. 20 Issue 1, p4-16, 13p

المؤلفون: Lindblad-Toh, Kerstin, Winchester, Ellen, Daly, Mark J., Wang, David G., Hirschhorn, Joel N., Laviolette, Jean-Philippe, Ardlie, Kristin, Reich, David E., Robinson, Elizabeth, Sklar, Pamela, Shah, Nila, Thomas, Daryl, Fan, Jian-Bing, Gingeras, Thomas, Warrington, Janet, Patil, Nila, Hudson, Thomas J., Lander, Eric S.

المصدر: Nature Genetics; Apr2000, Vol. 24 Issue 4, p381, 6p

مصطلحات موضوعية: GENETIC polymorphisms, NUCLEOTIDES

مستخلص: Single-nucleotide polymorphisms (SNPs) have been the focus of much attention in human genetics because they are extremely abundant and well-suited for automated large-scale genotyping. Human SNPs, however, are less informative than other types of genetic markers (such as simple-sequence length polymorphisms or microsatellites) and thus more loci are required for mapping traits. SNPs offer similar advantages for experimental genetic organisms such as the mouse, but they entail no loss of informativeness because bi-allelic markers are fully informative in analysing crosses between inbred strains. Here we report a large-scale analysis of SNPs in the mouse genome. We characterized the rate of nucleotide polymorphism in eight mouse strains and identified a collection of 2,848 SNPs located in 1,755 sequence-tagged sites (STSs) using high-density oligonucleotide arrays. Three-quarters of these SNPs have been mapped on the mouse genome, providing a first-generation SNP map of the mouse. We have also developed a multiplex genotyping procedure by which a genome scan can be performed with only six genotyping reactions per animal. [ABSTRACT FROM AUTHOR]

: Copyright of Nature Genetics is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)