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

Computational biology: toward deciphering gene regulatory information in mammalian genomes

TL;DR: Methods for finding transcription factor binding motifs and cis‐regulatory modules in coregulated genes, and methods for utilizing information from cross‐species comparisons and ChIP‐chip experiments are examined.
Journal ArticleDOI

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

TL;DR: Diagnostic exome sequencing established a molecular diagnosis for two patients in whom traditional testing methods were uninformative while expanding on the mutational and phenotypic spectrum and suggests that IQSEC2 may be more common than previously appreciated.
Proceedings ArticleDOI

Modelling Genetic Variations using Fragmentation-Coagulation Processes

TL;DR: The utility of FCPs on problems of genotype imputation with phased and unphased SNP data is demonstrated and an efficient Gibbs sampler is developed which uses uniformization and the forward-backward algorithm.
Journal ArticleDOI

The uncoupling protein 2 Ala55Val polymorphism is associated with diabetes mellitus: the CARDIA study.

TL;DR: The VV genotype of the UCP2 Ala55Val (V) polymorphism was positively related to diabetes and may involve increased insulin resistance in those with impaired glucose homeostasis.
Journal ArticleDOI

Association of a Polymorphism Near CREB1 With Differential Aversion Processing in the Insula of Healthy Participants

TL;DR: A polymorphism near CREB1 is associated with responsiveness to angry faces in a brain network implicated in processing aversion, associated with significant differential activation in an extended neural network responding to angry and other facial expressions.
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.