%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 }