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

Pkh Tam
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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.

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Citations
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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.
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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.
References
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Proceedings ArticleDOI

Predicting cancer susceptibility from single-nucleotide polymorphism data: a case study in multiple myeloma

TL;DR: The accuracy of the trained SVM estimated by leave-one-out cross-validation is significantly greater than random guessing, and this result is particularly encouraging since only 3000 SNPs were used in profiling, whereas several million SNPs are known.
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An efficient comprehensive search algorithm for tagSNP selection using linkage disequilibrium criteria

TL;DR: An improved algorithm for tagSNP selection using the pairwise r(2) criterion is devised, which first break down large marker sets into disjoint pieces, where more exhaustive searches can replace the greedy algorithm.
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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.
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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.
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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.