The promise of whole-exome sequencing in medical genetics
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different
DNA strands at once. These technologies are revolutionizing our understanding in medical …
DNA strands at once. These technologies are revolutionizing our understanding in medical …
Genetic tests in major psychiatric disorders—integrating molecular medicine with clinical psychiatry—why is it so difficult?
U Demkow, T Wolańczyk - Translational psychiatry, 2017 - nature.com
With the advent of post-genomic era, new technologies create extraordinary possibilities for
diagnostics and personalized therapy, transforming todays' medicine. Rooted in both …
diagnostics and personalized therapy, transforming todays' medicine. Rooted in both …
Loci influencing blood pressure identified using a cardiovascular gene-centric array
Blood pressure (BP) is a heritable determinant of risk for cardiovascular disease (CVD). To
investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial …
investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial …
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes
Background Multiple genes have been implicated by association studies in altering
inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more …
inflammatory bowel disease (IBD) predisposition. Paediatric patients often manifest more …
Quantifying single nucleotide variant detection sensitivity in exome sequencing
Background The targeted capture and sequencing of genomic regions has rapidly
demonstrated its utility in genetic studies. Inherent in this technology is considerable …
demonstrated its utility in genetic studies. Inherent in this technology is considerable …
From SNPs to genes: disease association at the gene level
Interpreting Genome-Wide Association Studies (GWAS) at a gene level is an important step
towards understanding the molecular processes that lead to disease. In order to incorporate …
towards understanding the molecular processes that lead to disease. In order to incorporate …
Integrative pathway analysis of a genome-wide association study of V̇o2max response to exercise training
We previously reported the findings from a genome-wide association study of the response
of maximal oxygen uptake (V̇o2max) to an exercise program. Here we follow up on these …
of maximal oxygen uptake (V̇o2max) to an exercise program. Here we follow up on these …
Insights into type 1 diabetes provided by genetic analyses
G Morahan - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
Insights into type 1 diabetes provided by genetic analyses : Current Opinion in Endocrinology,
Diabetes and Obesity Insights into type 1 diabetes provided by genetic analyses : Current …
Diabetes and Obesity Insights into type 1 diabetes provided by genetic analyses : Current …
What have we learned from six years of GWAS in autoimmune diseases, and what is next?
Genome-wide association studies (GWAS) have discovered hundreds of common genetic
variants that predispose humans to autoimmune diseases, opening up unprecedented …
variants that predispose humans to autoimmune diseases, opening up unprecedented …
Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk
JB Permuth, A Pirie, Y Ann Chen, HY Lin… - Human molecular …, 2016 - academic.oup.com
Rare and low frequency variants are not well covered in most germline genotyping arrays
and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap …
and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap …