Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh, Roddy
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 02 2017 - 192-203 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
1530-0366
10.1038/gim.2016.90 doi
Cardiomyopathies--epidemiology
Computational Biology
Databases, Genetic
Exome--genetics
Genetic Diseases, Inborn--genetics
Genetic Testing
Genetic Variation
Genome, Human
High-Throughput Nucleotide Sequencing
Humans
Mutation
Exome Sequencing
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics 02 2017 - 192-203 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
1530-0366
10.1038/gim.2016.90 doi
Cardiomyopathies--epidemiology
Computational Biology
Databases, Genetic
Exome--genetics
Genetic Diseases, Inborn--genetics
Genetic Testing
Genetic Variation
Genome, Human
High-Throughput Nucleotide Sequencing
Humans
Mutation
Exome Sequencing