Literature DB >> 12652301

Quality and completeness of SNP databases.

David E Reich1, Stacey B Gabriel, David Altshuler.   

Abstract

To address the quality and completeness of single-nucleotide polymorphism (SNP) databases, we resequenced 173 kb (spanning 17 loci) in 150 chromosomes of west African and European ancestry. Over 88% of SNPs in the public (TSC and BAC overlap) and Celera databases were confirmed in independent resequencing. Approximately 45% of all human heterozygosity is attributable to SNPs already available from the two databases, and of SNPs with minor-allele frequencies >10%, more than half are represented.

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Year:  2003        PMID: 12652301     DOI: 10.1038/ng1133

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  47 in total

1.  Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population.

Authors:  Yun Freudenberg-Hua; Jan Freudenberg; Nadine Kluck; Sven Cichon; Peter Propping; Markus M Nöthen
Journal:  Genome Res       Date:  2003-10       Impact factor: 9.043

2.  Large-scale validation of single nucleotide polymorphisms in gene regions.

Authors:  Matthew R Nelson; George Marnellos; Stefan Kammerer; Carolyn R Hoyal; Michael M Shi; Charles R Cantor; Andreas Braun
Journal:  Genome Res       Date:  2004-08       Impact factor: 9.043

3.  A high-density admixture map for disease gene discovery in african americans.

Authors:  Michael W Smith; Nick Patterson; James A Lautenberger; Ann L Truelove; Gavin J McDonald; Alicja Waliszewska; Bailey D Kessing; Michael J Malasky; Charles Scafe; Ernest Le; Philip L De Jager; Andre A Mignault; Zeng Yi; Guy De The; Myron Essex; Jean-Louis Sankale; Jason H Moore; Kwabena Poku; John P Phair; James J Goedert; David Vlahov; Scott M Williams; Sarah A Tishkoff; Cheryl A Winkler; Francisco M De La Vega; Trevor Woodage; John J Sninsky; David A Hafler; David Altshuler; Dennis A Gilbert; Stephen J O'Brien; David Reich
Journal:  Am J Hum Genet       Date:  2004-04-14       Impact factor: 11.025

4.  Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations.

Authors:  Dana C Crawford; Christopher S Carlson; Mark J Rieder; Dana P Carrington; Qian Yi; Joshua D Smith; Michael A Eberle; Leonid Kruglyak; Deborah A Nickerson
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

5.  M(3): an improved SNP calling algorithm for Illumina BeadArray data.

Authors:  Gengxin Li; Joel Gelernter; Henry R Kranzler; Hongyu Zhao
Journal:  Bioinformatics       Date:  2011-12-08       Impact factor: 6.937

Review 6.  Computational approaches to study the effects of small genomic variations.

Authors:  Kamil Khafizov; Maxim V Ivanov; Olga V Glazova; Sergei P Kovalenko
Journal:  J Mol Model       Date:  2015-09-08       Impact factor: 1.810

7.  Searching for signals of evolutionary selection in 168 genes related to immune function.

Authors:  Emily C Walsh; Pardis Sabeti; Holli B Hutcheson; Ben Fry; Stephen F Schaffner; Paul I W de Bakker; Patrick Varilly; Alejandro A Palma; Jessica Roy; Richard Cooper; Cheryl Winkler; Yi Zeng; Guy de The; Eric S Lander; Stephen O'Brien; David Altshuler
Journal:  Hum Genet       Date:  2005-12-14       Impact factor: 4.132

8.  Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.

Authors:  Richa Saxena; Paul I W de Bakker; Karyn Singer; Vamsi Mootha; Noel Burtt; Joel N Hirschhorn; Daniel Gaudet; Bo Isomaa; Mark J Daly; Leif Groop; Kristin G Ardlie; David Altshuler
Journal:  Am J Hum Genet       Date:  2006-05-24       Impact factor: 11.025

9.  Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

Authors:  Michael Olivier; Xujing Wang; Regina Cole; Brian Gau; Jessica Kim; Edward M Rubin; Len A Pennacchio
Journal:  Genomics       Date:  2004-05       Impact factor: 5.736

10.  Genome-wide association studies in cancer--current and future directions.

Authors:  Charles C Chung; Wagner C S Magalhaes; Jesus Gonzalez-Bosquet; Stephen J Chanock
Journal:  Carcinogenesis       Date:  2009-11-11       Impact factor: 4.944

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