Heuristic methods for finding pathogenic variants in gene coding sequences

Autor:	Robyn Otway, Diane Fatkin, Monique Ohanian
Rok vydání:	2013
Předmět:	Nonsynonymous substitution Pathology medicine.medical_specialty Heart Diseases Sequence analysis nonsynonymous Computational biology 030204 cardiovascular system & hematology 03 medical and health sciences 0302 clinical medicine cardiovascular disease medicine Humans Genetic Predisposition to Disease Gene Basic Science for Clinicians 030304 developmental biology 0303 health sciences Expediting Heuristic business.industry genetic variants Sequence Analysis DNA prediction Genetic code Genetic Code Genomic Structural Variation Human genome Cardiology and Cardiovascular Medicine business Coding (social sciences)
Zdroj:	Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
ISSN:	2047-9980
Popis:	These are exciting times, with a plethora of new technologies that are expediting discovery of the genetic underpinnings of human disease. Comprehensive resequencing of the human genome is now feasible and affordable, allowing each person's entire genetic makeup to be revealed. The major focus of
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47f8032f78dc76d8d156171e2d352f8d https://pubmed.ncbi.nlm.nih.gov/23316295 Zobrazit plný text záznamu Plný text