Evidence map›Paper›PMID 17151345›Full record

ArticleGenome research2007

Intra- and interpopulation genotype reconstruction from tagging SNPs.

Peristera Paschou, Michael W Mahoney, Asif Javed, Judith R Kidd, Andrew J Pakstis, Sheng Gu, Kenneth K Kidd, Petros Drineas

Abstract read
In one paragraph

Article in Genome research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. Genetic history of the population of Crete.Annals of human genetics · 2019
    Article
  2. Article
  3. Article
  4. Maritime route of colonization of Europe.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
  5. Article
  6. Article
  7. Genome-wide compatible SNP intervals and their properties.The 2010 ACM International Conference on Bioinformatics and Computational Biology : ACM-BCB 2010 : Niagara Falls, New York, U.S.A., August 2-4, 2010. ACM International Conference on Bioinformatics and Computational Biology (1st : 2010 :... · 2010
    Article
  8. CUR matrix decompositions for improved data analysis.Proceedings of the National Academy of Sciences of the United States of America · 2009
    Article
  9. Article
  10. Article
  11. Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Peristera PaschouDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06511, USA. ppaschou@mbg.duth.gr
Michael W Mahoney
Asif Javed
Judith R Kidd
Andrew J Pakstis
Sheng Gu
Kenneth K Kidd
Petros Drineas

Funding

Theoretical Studies of Linkage DisequilibriumP01GM057672 · NIGMS · YALE UNIVERSITY · PI KIDD, JUDITH R · 1998 to 2008
$11.0M
NIGMS NIH HHS GM 57672NIGMS NIH HHS P01 GM057672NINDS NIH HHS NS 40025
6 · The paper itself

Abstract

The optimal method to be used for tSNP selection, the applicability of a reference LD map to unassayed populations, and the scalability of these methods to genome-wide analysis, all remain subjects of debate. We propose novel, scalable matrix algorithms that address these issues and we evaluate them on genotypic data from 38 populations and four genomic regions (248 SNPs typed for approximately 2000 individuals). We also evaluate these algorithms on a second data set consisting of genotypes available from the HapMap database (1336 SNPs for four populations) over the same genomic regions. Furthermore, we test these methods in the setting of a real association study using a publicly available family data set. The algorithms we use for tSNP selection and unassayed SNP reconstruction do not require haplotype inference and they are, in principle, scalable even to genome-wide analysis. Moreover, they are greedy variants of recently developed matrix algorithms with provable performance guarantees. Using a small set of carefully selected tSNPs, we achieve very good reconstruction accuracy of "untyped" genotypes for most of the populations studied. Additionally, we demonstrate in a quantitative manner that the chosen tSNPs exhibit substantial transferability, both within and across different geographic regions. Finally, we show that reconstruction can be applied to retrieve significant SNP associations with disease, with important genotyping savings.

Indexed as

AlgorithmsGenotypePolymorphism, Single NucleotideChromosomes, Human, Pair 17Databases, Nucleic AcidHomeodomain ProteinsHumansLinkage DisequilibriumNerve Tissue ProteinsOrganic Anion Transport Protein 1Receptors, Cell SurfaceReceptors, NeuropeptideHomeodomain ProteinsNerve Tissue ProteinsOrganic Anion Transport Protein 1Receptors, Cell SurfaceReceptors, NeuropeptideSorCS3 protein, human

Identifiers

PMID17151345
PMCPMC1716273

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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.