Jay Shendure, Greg Cooper and colleagues report a framework for annotation of genetic variation, Combined Annotation–Dependent Depletion (CADD), integrating diverse annotations into a single C score. They show that C scores correlate with annotations of functionality, pathogenicity and experimentally measured regulatory effects.
%0 Journal Article
%1 kircher2014general
%A Kircher, Martin
%A Witten, Daniela M
%A Jain, Preti
%A O'Roak, Brian J
%A Cooper, Gregory M
%A Shendure, Jay
%D 2014
%J Nature Genetics
%K annotation deleterious_alleles distribution_of_fitness_effects human_genome
%N 3
%P 310--315
%R 10.1038/ng.2892
%T A general framework for estimating the relative pathogenicity of human genetic variants
%U https://doi.org/10.1038/ng.2892
%V 46
%X Jay Shendure, Greg Cooper and colleagues report a framework for annotation of genetic variation, Combined Annotation–Dependent Depletion (CADD), integrating diverse annotations into a single C score. They show that C scores correlate with annotations of functionality, pathogenicity and experimentally measured regulatory effects.
@article{kircher2014general,
abstract = {Jay Shendure, Greg Cooper and colleagues report a framework for annotation of genetic variation, Combined Annotation–Dependent Depletion (CADD), integrating diverse annotations into a single C score. They show that C scores correlate with annotations of functionality, pathogenicity and experimentally measured regulatory effects.},
added-at = {2020-01-25T01:22:18.000+0100},
author = {Kircher, Martin and Witten, Daniela M and Jain, Preti and O'Roak, Brian J and Cooper, Gregory M and Shendure, Jay},
biburl = {https://www.bibsonomy.org/bibtex/2b861f2cfaec7adeb5cf0639fa7624c3c/peter.ralph},
doi = {10.1038/ng.2892},
interhash = {2212090fc98f86c401b60515bca8ece2},
intrahash = {b861f2cfaec7adeb5cf0639fa7624c3c},
issn = {15461718},
journal = {Nature Genetics},
keywords = {annotation deleterious_alleles distribution_of_fitness_effects human_genome},
number = 3,
pages = {310--315},
refid = {Kircher2014},
timestamp = {2020-01-25T01:22:18.000+0100},
title = {A general framework for estimating the relative pathogenicity of human genetic variants},
url = {https://doi.org/10.1038/ng.2892},
volume = 46,
year = 2014
}