scispace - formally typeset
Open Access

The International HapMap Consortium. The International HapMap Project (Co-PI of Hong Kong Centre which responsible for 2.5% of genome)

Pkh Tam
About
The article was published on 2003-01-01 and is currently open access. It has received 557 citations till now. The article focuses on the topics: International HapMap Project.

read more

Citations
More filters
Journal ArticleDOI

SimPed: A Simulation Program to Generate Haplotype and Genotype Data for Pedigree Structures

TL;DR: SimPed as mentioned in this paper is a program that can generate haplotype and genotype data for pedigrees of virtually any size and complexity, either in linkage disequilibrium or equilibrium, for greater than 20,000 diallelic or multiallelic marker loci.
Journal ArticleDOI

Needles in the Haystack: Identifying Individuals Present in Pooled Genomic Data

TL;DR: The results reveal that the null distribution is sensitive to the underlying assumptions, making it difficult to accurately calibrate thresholds for classifying an individual as a member of the population samples, and the false-positive rates obtained in practice are considerably higher than previously believed.
Journal ArticleDOI

Gene-environment interactions: implications for sudden unexpected deaths in infancy

TL;DR: Advances in molecular genetics and the identification of gene polymorphisms in victims of sudden infant death syndrome are helping us better to understand that SIDS represents the confluence of specific environmental risk factors interacting in complex ways with specific polymorphisms to yield phenotypes susceptible to sudden and unexpected death in infancy.
Journal ArticleDOI

Analysis of Genetic Variation in Akt2/PKB-β in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes

TL;DR: Although heterozygous loss-of- function mutations in AKT2 can cause a syndrome of severe insulin resistance and lipodystrophy in humans, such mutations are uncommon causes of these syndromes.
Journal ArticleDOI

Large-scale recombination rate patterns are conserved among human populations.

TL;DR: It is shown that population recombination rates recapitulate a large part of the genetic map information, regardless of the population considered, which supports the hypothesis that large-scale recombination patterns are conserved across human populations.
References
More filters
Journal ArticleDOI

A haplotype map of the human genome

John W. Belmont, +232 more
TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Journal ArticleDOI

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer, +237 more
- 18 Oct 2007 - 
TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Journal ArticleDOI

Accurate whole human genome sequencing using reversible terminator chemistry

David R. Bentley, +201 more
- 06 Nov 2008 - 
TL;DR: An approach that generates several billion bases of accurate nucleotide sequence per experiment at low cost is reported, effective for accurate, rapid and economical whole-genome re-sequencing and many other biomedical applications.
Journal ArticleDOI

ABySS: A parallel assembler for short read sequence data

TL;DR: ABySS (Assembly By Short Sequences), a parallelized sequence assembler, was developed and assembled 3.5 billion paired-end reads from the genome of an African male publicly released by Illumina, Inc, representing 68% of the reference human genome.
Journal ArticleDOI

Genome sequence, comparative analysis and haplotype structure of the domestic dog

Kerstin Lindblad-Toh, +241 more
- 08 Dec 2005 - 
TL;DR: A high-quality draft genome sequence of the domestic dog is reported, together with a dense map of single nucleotide polymorphisms (SNPs) across breeds, to shed light on the structure and evolution of genomes and genes.