dbSNP—database for single nucleotide polymorphisms and other classes of minor genetic variation

ST Sherry, M Ward, K Sirotkin - Genome research, 1999 - genome.cshlp.org
Akey aspect of research in genetics is associating sequence variations with heritable
phenotypes. The most common variations are single nucleotide polymorphisms (SNPs) …

Single nucleotide polymorphisms and the future of genetic epidemiology

NJ Schork, D Fallin, JS Lanchbury - Clinical genetics, 2000 - Wiley Online Library
In this review, we consider the motivation behind contemporary Single Nucleotide
Polymorphism (SNP) initiatives. Many of these initiatives are projected to involve large …

dbSNP: the NCBI database of genetic variation

ST Sherry, MH Ward, M Kholodov, J Baker… - Nucleic acids …, 2001 - academic.oup.com
In response to a need for a general catalog of genome variation to address the large-scale
sampling designs required by association studies, gene mapping and evolutionary biology …

SNPs, protein structure, and disease

Z Wang, J Moult - Human mutation, 2001 - Wiley Online Library
Inherited disease susceptibility in humans is most commonly associated with single
nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly …

dbSNP: a database of single nucleotide polymorphisms

EM Smigielski, K Sirotkin, M Ward… - Nucleic acids …, 2000 - academic.oup.com
In response to a need for a general catalog of genome variation to address the large-scale
sampling designs required by association studies, gene mapping and evolutionary biology …

Pharmacogenetics–five decades of therapeutic lessons from genetic diversity

UA Meyer - Nature Reviews Genetics, 2004 - nature.com
Physicians have long been aware of the subtle differences in the responses of patients to
medication. The recognition that a part of this variation is inherited, and therefore …

High-throughput genotyping with single nucleotide polymorphisms

K Ranade, MS Chang, CT Ting, D Pei… - Genome …, 2001 - genome.cshlp.org
To make large-scale association studies a reality, automated high-throughput methods for
genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR …

GOLD—graphical overview of linkage disequilibrium

GR Abecasis, WOC Cookson - Bioinformatics, 2000 - academic.oup.com
We describe a software package that provides a graphical summary of linkage
disequilibrium in human genetic data. It allows for the analysis of family data and is well …

The promise of comparative genomics in mammals

SJ O'Brien, M Menotti-Raymond, WJ Murphy, WG Nash… - Science, 1999 - science.org
Dense genetic maps of human, mouse, and rat genomes that are based on coding genes
and on microsatellite and single-nucleotide polymorphism markers have been …

Функциональный полиморфизм генов регуляторных молекул воспаления

АС Симбирцев, АЮ Громова - Цитокины и воспаление, 2005 - elibrary.ru
В последнее время накапливается все больше данных, свидетельствующих о том, что
полиморфизм единичных нуклеотидов (SNP) за счет формирования специфических …