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Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.…
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
It is reported that a genetic polymorphism near the IL28B gene, encoding interferon-λ-3 (IFN-α-2a) is associated with an approximately twofold change in response to treatment, both among patients of European ancestry and African-Americans.
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus
It is shown that the C/C genotype strongly enhances resolution of HCV infection among individuals of both European and African ancestry, the strongest and most significant genetic effect associated with natural clearance ofHCV.
An evaluation of genetic distances for use with microsatellite loci.
A genetic distance based on the stepwise mutation model that includes allelic repeat score is developed and found that for phylogenetic reconstruction of taxa that are sufficiently diverged, this new distance is preferable.
Genetic absolute dating based on microsatellites and the origin of modern humans.
- D. Goldstein, A. Ruiz Linares, L. Cavalli-Sforza, M. Feldman
- BiologyProceedings of the National Academy of Sciences…
- 18 July 1995
It is estimated that the deepest split in the human phylogeny occurred about 156,000 years ago, and the new distance is independent of population size and therefore allows direct estimation of divergence times if the mutation rate is known.
Common variants conferring risk of schizophrenia
Findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
An intolerance scoring system that assesses whether genes have relatively more or less functional genetic variation than expected based on the apparently neutral variation found in the gene is developed, showing that use of an intolerance ranking system can aid in interpreting personal genomes and identifying pathogenic mutations.
A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
Using a whole-genome association strategy, polymorphisms that explain nearly 15% of the variation among individuals in viral load during the asymptomatic set-point period of infection are identified.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.