SNP genotyping: technologies and biomedical applications
S Kim, A Misra - Annu. Rev. Biomed. Eng., 2007 - annualreviews.org
Single nucleotide polymorphisms (SNPs) are the most frequently occurring genetic variation
in the human genome, with the total number of SNPs reported in public SNP databases …
in the human genome, with the total number of SNPs reported in public SNP databases …
Cancer survivorship—genetic susceptibility and second primary cancers: research strategies and recommendations
LB Travis, CS Rabkin, LM Brown… - Journal of the …, 2006 - academic.oup.com
Abstract Cancer survivors constitute 3.5% of the United States population, but second
primary malignancies among this high-risk group now account for 16% of all cancer …
primary malignancies among this high-risk group now account for 16% of all cancer …
[HTML][HTML] Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
Background Mutations in TERC, the gene for the RNA component of telomerase, cause
short telomeres in congenital aplastic anemia and in some cases of apparently acquired …
short telomeres in congenital aplastic anemia and in some cases of apparently acquired …
NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses
Background Many reported associations between common genetic polymorphisms and
complex diseases have not been confirmed in subsequent studies. An exception could be …
complex diseases have not been confirmed in subsequent studies. An exception could be …
The micro-ribonucleic acid (miRNA) miR-206 targets the human estrogen receptor-α (ERα) and represses ERα messenger RNA and protein expression in breast …
Micro-RNAs are small noncoding RNAs, which diminish the stability and/or translation of
mRNAs. This study examined whether miR-206, previously shown to be elevated in …
mRNAs. This study examined whether miR-206, previously shown to be elevated in …
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization
HY Yuan, JJ Chiou, WH Tseng, CH Liu… - Nucleic acids …, 2006 - academic.oup.com
Single nucleotide polymorphism (SNP) prioritization based on the phenotypic risk is
essential for association studies. Assessment of the risk requires access to a variety of …
essential for association studies. Assessment of the risk requires access to a variety of …
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
Currently, single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) of>
5% are preferentially used in case-control association studies of common human diseases …
5% are preferentially used in case-control association studies of common human diseases …
A spectrum of severe familial liver disorders associate with telomerase mutations
RT Calado, JA Regal, DE Kleiner, DS Schrump… - PloS one, 2009 - journals.plos.org
Background Telomerase is an enzyme specialized in maintaining telomere lengths in highly
proliferative cells. Loss-of-function mutations cause critical telomere shortening and are …
proliferative cells. Loss-of-function mutations cause critical telomere shortening and are …
Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium
N Rothman, CF Skibola, SS Wang, G Morgan… - The lancet …, 2006 - thelancet.com
Background Common genetic variants in immune and inflammatory response genes can
affect the risk of developing non-Hodgkin lymphoma. We aimed to test this hypothesis using …
affect the risk of developing non-Hodgkin lymphoma. We aimed to test this hypothesis using …
Candidate gene association studies: a comprehensive guide to useful in silicotools
The candidate gene approach has been a pioneer in the field of genetic epidemiology,
identifying risk alleles and their association with clinical traits. With the advent of rapidly …
identifying risk alleles and their association with clinical traits. With the advent of rapidly …