SNPs: impact on gene function and phenotype

BS Shastry - Single nucleotide polymorphisms: methods and …, 2009 - Springer
Single nucleotide polymorphism (SNP) is the simplest form of DNA variation among
individuals. These simple changes can be of transition or transversion type and they occur …

[图书][B] Single nucleotide polymorphisms: methods and protocols

PY Kwok - 2008 - books.google.com
Single nucleotide polymorphisms (SNPs) have become the markers of choice in elucidating
the relationship between DNA sequence variation and susceptibility to disease and have …

Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies

BN Chorley, X Wang, MR Campbell, GS Pittman… - … Research/Reviews in …, 2008 - Elsevier
The most common form of genetic variation, single nucleotide polymorphisms or SNPs, can
affect the way an individual responds to the environment and modify disease risk. Although …

The essence of SNPs

AJ Brookes - Gene, 1999 - Elsevier
Single nucleotide polymorphisms (SNPs) are an abundant form of genome variation,
distinguished from rare variations by a requirement for the least abundant allele to have a …

[HTML][HTML] SNPs in disease gene mapping, medicinal drug development and evolution

BS Shastry - Journal of human genetics, 2007 - nature.com
Single nucleotide polymorphism (SNP) technologies can be used to identify disease-
causing genes in humans and to understand the inter-individual variation in drug response …

SNP alleles in human disease and evolution

BS Shastry - Journal of human genetics, 2002 - nature.com
In two randomly selected human genomes, 99.9% of the DNA sequence is identical. The
remaining 0.1% of DNA contains sequence variations. The most common type of such …

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 …

Single nucleotide polymorphisms as tools in human genetics

IC Gray, DA Campbell, NK Spurr - Human molecular genetics, 2000 - academic.oup.com
The development of detailed single nucleotide polymorphism (SNP) maps of the human
genome coupled with high-throughput genotyping technologies may allow us to unravel …

Regulatory SNPs in complex diseases: their identification and functional validation

L Prokunina, ME Alarcón-Riquelme - Expert reviews in molecular …, 2004 - cambridge.org
Finding the genetic causes for complex diseases is a challenge. Expression studies have
shown that the level of expression of many genes is altered in disease compared with …

Genetic polymorphism studies in humans

S Ismail, M Essawi - Middle East Journal of Medical Genetics, 2012 - journals.lww.com
Genetic polymorphism is defined as the inheritance of a trait controlled by a single genetic
locus with two alleles, in which the least common allele has a frequency of about 1% or …