Keywords
Mendelian inheritanceBiologyGenomeHuman genomeGeneticsComputational biologyGeneHuman geneticsEvolutionary biologyWhole genome sequencing
Affiliated Institutions
Related Publications
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impa...
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...
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...
The mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...
Publication Info
- Year
- 2000
- Type
- review
- Volume
- 405
- Issue
- 6788
- Pages
- 847-856
- Citations
- 1837
- Access
- Closed
External Links
Social Impact
Altmetric
PlumX Metrics
Social media, news, blog, policy document mentions
Citation Metrics
1837
OpenAlex
Cite This
Neil Risch
(2000).
Searching for genetic determinants in the new millennium.
Nature
, 405
(6788)
, 847-856.
https://doi.org/10.1038/35015718
Identifiers
- DOI
- 10.1038/35015718