Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

@inproceedings{Petrovski2013GenicIT,
  title={Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes},
  author={Slav{\'e} Petrovski and Quanli Wang and Erin L. Heinzen and Andrew S. Allen and David B. Goldstein},
  booktitle={PLoS genetics},
  year={2013}
}
A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutations, the characteristics of the genes in which those mutations are found remain largely unexplored. For example, genes known to carry few common functional variants in healthy individuals may be judged more likely to cause certain kinds of disease than genes known to carry many such variants. Until… CONTINUE READING

Topics from this paper.

Citations

Publications citing this paper.
SHOWING 1-10 OF 316 CITATIONS

Disrupted-in-Schizophrenia-1 (DISC1) protein disturbs neural function in multiple disease-risk pathways.

  • Human molecular genetics
  • 2017
VIEW 9 EXCERPTS
CITES BACKGROUND & METHODS
HIGHLY INFLUENCED

Essential Genes And Their Role In Autism Spectrum Disorder

VIEW 16 EXCERPTS
CITES BACKGROUND, METHODS & RESULTS
HIGHLY INFLUENCED

Strength of functional signature correlates with effect size in autism

  • Genome Medicine
  • 2017
VIEW 8 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

  • Molecular pharmacology
  • 2015
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

  • PLoS genetics
  • 2015
VIEW 12 EXCERPTS
CITES BACKGROUND, METHODS & RESULTS
HIGHLY INFLUENCED

SDS, a structural disruption score for assessment of missense variant deleteriousness

VIEW 9 EXCERPTS
CITES BACKGROUND, METHODS & RESULTS
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2013
2019

CITATION STATISTICS

  • 45 Highly Influenced Citations

  • Averaged 63 Citations per year over the last 3 years

Similar Papers

Loading similar papers…