Update on NAFLD genetics: from new variants to the clinic
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …
Genetics and epigenetics of NAFLD and NASH: Clinical impact
Non-alcoholic fatty liver disease (NAFLD) is now recognised as the most common liver
disease worldwide. It encompasses a broad spectrum of conditions, from simple steatosis …
disease worldwide. It encompasses a broad spectrum of conditions, from simple steatosis …
Mechanisms of age-related macular degeneration
J Ambati, BJ Fowler - Neuron, 2012 - cell.com
Age-related macular degeneration (AMD), a progressive condition that is untreatable in up
to 90% of patients, is a leading cause of blindness in the elderly worldwide. The two forms of …
to 90% of patients, is a leading cause of blindness in the elderly worldwide. The two forms of …
Finding the missing heritability of complex diseases
TA Manolio, FS Collins, NJ Cox, DB Goldstein… - Nature, 2009 - nature.com
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
Genomewide association studies and assessment of the risk of disease
TA Manolio - New England journal of medicine, 2010 - Mass Medical Soc
Over the past 5 years, genomewide association studies have yielded a wealth of insight into
genes and chromosomal loci that contribute to susceptibility to disease. This article, the …
genes and chromosomal loci that contribute to susceptibility to disease. This article, the …
Why significant variables aren't automatically good predictors
Thus far, genome-wide association studies (GWAS) have been disappointing in the inability
of investigators to use the results of identified, statistically significant variants in complex …
of investigators to use the results of identified, statistically significant variants in complex …
Bringing genome-wide association findings into clinical use
TA Manolio - Nature Reviews Genetics, 2013 - nature.com
Genome-wide association studies (GWASs) have been heralded as a major advance in
biomedical discovery, having identified~ 2,000 robust associations with complex diseases …
biomedical discovery, having identified~ 2,000 robust associations with complex diseases …
Clinical assessment incorporating a personal genome
Background The cost of genomic information has fallen steeply, but the clinical translation of
genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a …
genetic risk estimates remains unclear. We aimed to undertake an integrated analysis of a …
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
W Chen, D Stambolian, AO Edwards… - Proceedings of the …, 2010 - National Acad Sciences
We executed a genome-wide association scan for age-related macular degeneration (AMD)
in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH (P< …
in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH (P< …
Bioinformatics challenges for genome-wide association studies
Motivation: The sequencing of the human genome has made it possible to identify an
informative set of> 1 million single nucleotide polymorphisms (SNPs) across the genome …
informative set of> 1 million single nucleotide polymorphisms (SNPs) across the genome …