Evidence map›Paper›PMID 15389393›Full record

ArticleAmerican journal of human genetics2004

Finding haplotype tagging SNPs by use of principal components analysis.

Zhen Lin, Russ B Altman

Abstract read
In one paragraph

Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

32 citing papers in PubMed.

  1. AI applications in functional genomics.Computational and structural biotechnology journal · 2021
    Review
  2. Article
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  4. Article
  5. Efficiently identifying significant associations in genome-wide association studies.Journal of computational biology : a journal of computational molecular cell biology · 2013
    Article
  6. Article
  7. Variable set enrichment analysis in genome-wide association studies.European journal of human genetics : EJHG · 2011
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Efficient genome-wide TagSNP selection across populations via the linkage disequilibrium criterion.Journal of computational biology : a journal of computational molecular cell biology · 2010
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

2 authors.

Zhen LinDepartment of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120, USA.
Russ B Altman

Funding

POSTDOCTORAL TRAINING IN MEDICAL INFORMATION SCIENCEST15LM007033 · NLM · STANFORD UNIVERSITY · PI SYLVIA KATINA PLEVRITIS · 1985 to 2026
$25.5M
THE STANFORD PHARMACOGENETICS KNOWLEDGE BASEU01GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO · 2000 to 2009
$24.0M
NIGMS NIH HHS U01 GM061374NIGMS NIH HHS U01-GM61374NLM NIH HHS LM007033NLM NIH HHS T15 LM007033
6 · The paper itself

Abstract

The immense volume and rapid growth of human genomic data, especially single nucleotide polymorphisms (SNPs), present special challenges for both biomedical researchers and automatic algorithms. One such challenge is to select an optimal subset of SNPs, commonly referred as "haplotype tagging SNPs" (htSNPs), to capture most of the haplotype diversity of each haplotype block or gene-specific region. This information-reduction process facilitates cost-effective genotyping and, subsequently, genotype-phenotype association studies. It also has implications for assessing the risk of identifying research subjects on the basis of SNP information deposited in public domain databases. We have investigated methods for selecting htSNPs by use of principal components analysis (PCA). These methods first identify eigenSNPs and then map them to actual SNPs. We evaluated two mapping strategies, greedy discard and varimax rotation, by assessing the ability of the selected htSNPs to reconstruct genotypes of non-htSNPs. We also compared these methods with two other htSNP finders, one of which is PCA based. We applied these methods to three experimental data sets and found that the PCA-based methods tend to select the smallest set of htSNPs to achieve a 90% reconstruction precision.

Indexed as

Chromosome MappingEvaluation Studies as TopicGenomicsGenotypeHaplotypesHumansPolymorphism, Single NucleotidePrincipal Component Analysis

Identifiers

PMID15389393
PMCPMC1182114

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.