HAPLOT: a graphical comparison of haplotype blocks, tagSNP sets and SNP variation for multiple populations
نویسندگان
چکیده
UNLABELLED Understanding of human variation relevant to association studies can benefit from population comparison, especially comparing populations in the same geographical region. Variations in linkage disequilibrium patterns, in tagSNP sets, and in SNP heterozygosities among populations can be used to infer the evolutionary pattern. We present here a win32 system based Perl/Tk application for visual comparisons of these variations in different populations. AVAILABILITY The application package is available at http://info.med.yale.edu/genetics/kkidd/programs.html CONTACT [email protected].
منابع مشابه
Haplotype Block Partitioning and tagSNP Selection under the Perfect Phylogeny Model
Single Nucleotide Polymorphisms (SNPs) are the most usual form of polymorphism in human genome.Analyses of genetic variations have revealed that individual genomes share common SNP-haplotypes. Theparticular pattern of these common variations forms a block-like structure on human genome. In this work,we develop a new method based on the Perfect Phylogeny Model to identify haplo...
متن کاملThe effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates.
The definition of haplotype blocks of single-nucleotide polymorphisms (SNPs) has been proposed so that the haplotypes can be used as markers in association studies and to efficiently describe human genetic variation. The International Haplotype Map (HapMap) project to construct a comprehensive catalog of haplotypic variation in humans is underway. However, a number of factors have already been ...
متن کاملHaplotype Block Partitioning and TagSNP Selection on Human Chromosome 21
A Single Nucleotide Polymorphism or SNP is a DNA sequence variation occurring when a single nucleotide in the genome differs between members of species. Recent research reveals that SNPs within certain haplotype blocks induce only a few distinct common haplotypes in the majority of the population. The existence of haplotype block structures has serious implications for association-based methods...
متن کاملHaplotype block structures show significant variation among populations.
Recent studies suggest that haplotypes tend to have block-like structures throughout the human genome. Several methods were proposed for haplotype block partitioning and for tagging single-nucleotide polymorphism (SNP) identification. In population genetics studies, several research groups compared block structures across human populations. However, the measures used to quantify population simi...
متن کاملAssociation analysis of the SLC22A11 (organic anion transporter 4) and SLC22A12 (urate transporter 1) urate transporter locus with gout in New Zealand case-control sample sets reveals multiple ancestral-specific effects
INTRODUCTION There is inconsistent association between urate transporters SLC22A11 (organic anion transporter 4 (OAT4)) and SLC22A12 (urate transporter 1 (URAT1)) and risk of gout. New Zealand (NZ) Māori and Pacific Island people have higher serum urate and more severe gout than European people. The aim of this study was to test genetic variation across the SLC22A11/SLC22A12 locus for associati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Bioinformatics
دوره 21 20 شماره
صفحات -
تاریخ انتشار 2005