How many SNPs does a genome-wide haplotype map require?

被引:70
作者
Judson, R [1 ]
Salisbury, B [1 ]
Schneider, J [1 ]
Windemuth, A [1 ]
Stephens, JC [1 ]
机构
[1] Genaissance Pharmaceut, New Haven, CT 06511 USA
关键词
genome-wide map; genotyping; haplotype; haplotype black; linkage disequilibrium; SNP;
D O I
10.1517/14622416.3.3.379
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
We derive and compare several estimates of the number of SNPs that would be required to form the basis of a complete haplotype survey of the human genome. Our estimates make use of reports published by Stephens et al. [1], Patil et al. [2] and Daly et al. [3]. The estimated number of SNPs required for a genome-wide haplotype survey ranges from 180K (based on a European sample of 16 chromosomes) to 600K (based on an ethnically diverse sample of 164 chromosomes). We discuss the implications of using cohorts of different size and ethnic composition and the usefulness of public SNP databases for this effort. Finally, we estimate the experimental effort and cost required to complete a genome-wide haplotype survey.
引用
收藏
页码:379 / 391
页数:13
相关论文
共 46 条
[1]   Haplotypes vs single marker linkage disequilibrium tests:: what do we gain? (Reprinted European Journal of Human Genetics, Vol 4, pg 291-300, 2001) [J].
Akey, Joshua ;
Jin, Li ;
Xiong, Momiao .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 :S51-S58
[2]   The essence of SNPs [J].
Brookes, AJ .
GENE, 1999, 234 (02) :177-186
[3]   HGBASE:: a database of SNPs and other variations in and around human genes [J].
Brookes, AJ ;
Lehväslaiho, H ;
Siegfried, M ;
Boehm, JG ;
Yuan, YP ;
Sarkar, CM ;
Bork, P ;
Ortigao, F .
NUCLEIC ACIDS RESEARCH, 2000, 28 (01) :356-360
[4]  
CLARK AG, 1990, MOL BIOL EVOL, V7, P111
[5]   Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase [J].
Clark, AG ;
Weiss, KM ;
Nickerson, DA ;
Taylor, SL ;
Buchanan, A ;
Stengård, J ;
Salomaa, V ;
Vartiainen, E ;
Perola, M ;
Boerwinkle, E ;
Sing, CF .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :595-612
[6]   Genetic epidemiology of single-nucleotide polymorphisms [J].
Collins, A ;
Lonjou, C ;
Morton, NE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (26) :15173-15177
[7]   A DNA polymorphism discovery resource for research on human genetic variation [J].
Collins, FS ;
Brooks, LD ;
Chakravarti, A .
GENOME RESEARCH, 1998, 8 (12) :1229-1231
[8]   New goals for the US Human Genome Project: 1998-2003 [J].
Collins, FS ;
Patrinos, A ;
Jordan, E ;
Chakravarti, A ;
Gesteland, R ;
Walters, L ;
Fearon, E ;
Hartwelt, L ;
Langley, CH ;
Mathies, RA ;
Olson, M ;
Pawson, AJ ;
Pollard, T ;
Williamson, A ;
Wold, B ;
Buetow, K ;
Branscomb, E ;
Capecchi, M ;
Church, G ;
Garner, H ;
Gibbs, RA ;
Hawkins, T ;
Hodgson, K ;
Knotek, M ;
Meisler, M ;
Rubin, GM ;
Smith, LM ;
Smith, RF ;
Westerfield, M ;
Clayton, EW ;
Fisher, NL ;
Lerman, CE ;
McInerney, JD ;
Nebo, W ;
Press, N ;
Valle, D .
SCIENCE, 1998, 282 (5389) :682-689
[9]   High-resolution haplotype structure in the human genome [J].
Daly, MJ ;
Rioux, JD ;
Schaffner, SE ;
Hudson, TJ ;
Lander, ES .
NATURE GENETICS, 2001, 29 (02) :229-232
[10]   Assessment of the total number of human transcription units [J].
Das, M ;
Burge, CB ;
Park, E ;
Colinas, J ;
Pelletier, J .
GENOMICS, 2001, 77 (1-2) :71-78