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 …
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 …
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 …
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
Elevated blood pressure is a common, heritable cause of cardiovascular disease worldwide.
To date, identification of common genetic variants influencing blood pressure has proven …
To date, identification of common genetic variants influencing blood pressure has proven …
Transcriptome and genome sequencing uncovers functional variation in humans
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 …
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 …
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 …
systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from …
Genome sequence, comparative analysis, and population genetics of the domestic horse
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 …
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 …
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 …
both genetic and environmental factors. Genome scans in families with SLE point to multiple …