Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Biochemical and cellular properties of insulin receptor signalling
RA Haeusler, TE McGraw, D Accili - Nature reviews Molecular cell …, 2018 - nature.com
The mechanism of insulin action is a central theme in biology and medicine. In addition to
the rather rare condition of insulin deficiency caused by autoimmune destruction of …
the rather rare condition of insulin deficiency caused by autoimmune destruction of …
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
elderly, with limited therapeutic options. Here we report on a study of> 12 million variants …
Non-coding genetic variants in human disease
Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …
(CNVs), in the non-coding regions of the human genome can play an important role in …
Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity
In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …
cause of numerous health complications and increased mortality. Being a complex and …
Five years of GWAS discovery
The past five years have seen many scientific and biological discoveries made through the
experimental design of genome-wide association studies (GWASs). These studies were …
experimental design of genome-wide association studies (GWASs). These studies were …
[HTML][HTML] The hunger genes: pathways to obesity
AA Van der Klaauw, IS Farooqi - Cell, 2015 - cell.com
The global rise in the prevalence of obesity and associated co-morbidities such as type 2
diabetes, cardiovascular disease, and cancer represents a major public health concern. The …
diabetes, cardiovascular disease, and cancer represents a major public health concern. The …
[HTML][HTML] Genetic and epigenetic causes of obesity
VV Thaker - Adolescent medicine: state of the art reviews, 2017 - ncbi.nlm.nih.gov
Obesity is a complex, heritable trait influenced by the interplay of genetics, epigenetics,
metagenomics and the environment. With the increasing access to high precision diagnostic …
metagenomics and the environment. With the increasing access to high precision diagnostic …
Artemis: an integrated platform for visualization and analysis of high-throughput sequence-based experimental data
Motivation: High-throughput sequencing (HTS) technologies have made low-cost
sequencing of large numbers of samples commonplace. An explosion in the type, not just …
sequencing of large numbers of samples commonplace. An explosion in the type, not just …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …