Molecular genetic studies of complex phenotypes
AJ Marian - Translational Research, 2012 - Elsevier
The approach to molecular genetic studies of complex phenotypes evolved considerably
during the recent years. The candidate gene approach, which is restricted to an analysis of a …
during the recent years. The candidate gene approach, which is restricted to an analysis of a …
Next‐generation sequencing: ready for the clinics?
AN Desai, A Jere - Clinical genetics, 2012 - Wiley Online Library
Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …
Rate of de novo mutations and the importance of father's age to disease risk
Mutations generate sequence diversity and provide a substrate for selection. The rate of de
novo mutations is therefore of major importance to evolution. Here we conduct a study of …
novo mutations is therefore of major importance to evolution. Here we conduct a study of …
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
The prevalence of dementia in the Western world in people over the age of 60 has been
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …
Seventy-five genetic loci influencing the human red blood cell
P Van Der Harst, W Zhang, I Mateo Leach, A Rendon… - Nature, 2012 - nature.com
Anaemia is a chief determinant of global ill health, contributing to cognitive impairment,
growth retardation and impaired physical capacity. To understand further the genetic factors …
growth retardation and impaired physical capacity. To understand further the genetic factors …
Exome sequencing and complex disease: practical aspects of rare variant association studies
R Do, S Kathiresan, GR Abecasis - Human molecular genetics, 2012 - academic.oup.com
Genetic association and linkage studies can provide insights into complex disease biology,
guiding the development of new diagnostic and therapeutic strategies. Over the past …
guiding the development of new diagnostic and therapeutic strategies. Over the past …
Melanesian blond hair is caused by an amino acid change in TYRP1
Naturally blond hair is rare in humans and found almost exclusively in Europe and Oceania.
Here, we identify an arginine-to-cysteine change at a highly conserved residue in tyrosinase …
Here, we identify an arginine-to-cysteine change at a highly conserved residue in tyrosinase …
[HTML][HTML] Strategies and utility of imputed SNP genotypes for genomic analysis in dairy cattle
Background We investigated strategies and factors affecting accuracy of imputing genotypes
from lower-density SNP panels (Illumina 3K, 7K, Affymetrix 15K and 25K, and evenly spaced …
from lower-density SNP panels (Illumina 3K, 7K, Affymetrix 15K and 25K, and evenly spaced …
DNA sequencing: clinical applications of new DNA sequencing technologies
We are in a time of great change in genetics that may dramatically impact human biology
and medicine. The completion of the human genome project, 1, 2 the development of low …
and medicine. The completion of the human genome project, 1, 2 the development of low …
[HTML][HTML] Informed conditioning on clinical covariates increases power in case-control association studies
Genetic case-control association studies often include data on clinical covariates, such as
body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk …
body mass index (BMI), smoking status, or age, that may modify the underlying genetic risk …