Keywords
Affiliated Institutions
Related Publications
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
High throughput sequencing has facilitated a precipitous drop in the cost of genomic sequencing, prompting predictions of a revolution in medicine via genetic personalization of...
Genetic Mapping in Human Disease
Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the ...
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.
A genetic component in the etiology of Alzheimer disease (AD) has been supported by indirect evidence for several years, with autosomal dominant inheritance with age-dependent p...
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
There is a limited understanding about the impact of rare protein-truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitat...
Evaluating the potential role of pleiotropy in Mendelian randomization studies
Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely widespread in the human genome. If pleiotropy arises because the single nucleotide ...
Publication Info
- Year
- 2012
- Type
- review
- Volume
- 29
- Issue
- 3
- Pages
- 150-159
- Citations
- 201
- Access
- Closed
External Links
Social Impact
Social media, news, blog, policy document mentions
Citation Metrics
Cite This
Identifiers
- DOI
- 10.1016/j.tig.2012.11.004