Accessing genetic variation: genotyping single nucleotide polymorphisms

AC Syvänen - Nature Reviews Genetics, 2001 - nature.com
Understanding the relationship between genetic variation and biological function on a
genomic scale is expected to provide fundamental new insights into the biology, evolution …

Toward genome-wide SNP genotyping

AC Syvänen - Nature genetics, 2005 - nature.com
Genome-wide association studies with SNP markers are expected to allow identification of
genes that underlie complex disorders. Hundreds of thousands of SNP markers will be …

From gels to chips:“minisequencing” primer extension for analysis of point mutations and single nucleotide polymorphisms

AC Syvänen - Human mutation, 1999 - Wiley Online Library
In the minisequencing primer extension reaction, a DNA polymerase is used specifically to
extend a primer that anneals immediately adjacent to the nucleotide position to be analyzed …

Genome-wide association study identifies eight loci associated with blood pressure

C Newton-Cheh, T Johnson, V Gateva, MD Tobin… - Nature …, 2009 - nature.com
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide.
To date, identification of common genetic variants influencing blood pressure has proven …

Transcriptome and genome sequencing uncovers functional variation in humans

T Lappalainen, M Sammeth, MR Friedländer… - Nature, 2013 - nature.com
Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

[HTML][HTML] Association of Systemic Lupus Erythematosus with C8orf13–BLK and ITGAM–ITGAX

G Hom, RR Graham, B Modrek, KE Taylor… - … England Journal of …, 2008 - Mass Medical Soc
Background Systemic lupus erythematosus (SLE) is a clinically heterogeneous disease in
which the risk of disease is influenced by complex genetic and environmental contributions …

A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

V Gateva, JK Sandling, G Hom, KE Taylor, SA Chung… - Nature …, 2009 - nature.com
Genome-wide association studies have recently identified at least 15 susceptibility loci for
systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from …

Genome sequence, comparative analysis, and population genetics of the domestic horse

CM Wade, E Giulotto, S Sigurdsson, M Zoli, S Gnerre… - Science, 2009 - science.org
We report a high-quality draft sequence of the genome of the horse (Equus caballus). The
genome is relatively repetitive but has little segmental duplication. Chromosomes appear to …

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

J Bentham, DL Morris, DS Cunninghame Graham… - Nature …, 2015 - nature.com
Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease
characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous …

[PDF][PDF] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus

S Sigurdsson, G Nordmark, HHH Göring… - The American Journal of …, 2005 - cell.com
Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease caused by
both genetic and environmental factors. Genome scans in families with SLE point to multiple …