Quality and completeness of SNP databases

Quality and completeness of SNP databases

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 resequ...

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Veröffentlicht in:Nature genetics 2003-04, Vol.33 (4), p.457-458
Hauptverfasser: Reich, David E, Gabriel, Stacey B, Altshuler, David
Format: Artikel
Sprache:eng
Schlagworte:
Agriculture
Alleles
Animal Genetics and Genomics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
brief-communication
Cancer Research
Chromosome Mapping
Chromosomes
Databases as Topic
Fundamental and applied biological sciences. Psychology
Gene Function
Genetic Variation
Genome, Human
Genomes
Haplotypes
Heterozygote
Human Genetics
Humans
Identification and classification
Molecular and cellular biology
Physiological aspects
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Single nucleotide polymorphisms
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Beschreibung
Zusammenfassung: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.
ISSN:1061-4036
1546-1718
DOI:10.1038/ng1133