Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data

Autor:	Javier Santoyo, Jorge Jiménez-Almazán, Javier Pérez, Guillermo Antiñolo, Antonio Rueda, José Carbonell, Joaquín Dopazo, Luis Miguel Cruz, Francisco Javier López, Enrique Vidal, Pablo Arce
Rok vydání:	2013
Předmět:	Genetics symbols.namesake Pipeline (computing) Mendelian inheritance symbols Genome project Biology Exome Exome sequencing Selection (genetic algorithm)
Zdroj:	EMBnet.journal. 19:79
ISSN:	2226-6089
Popis:	In this poster, a whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseases is presented. Such methodology provides a complete strategy from SOLiD raw reads processing to mendelian analysis and variant selection, and its application over a set of samples from the Medical Genome Project, demonstrating the good performance of the proposed pipeline.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::c8f3c4089f304962989157aed0c53091 https://doi.org/10.14806/ej.19.a.647 Zobrazit plný text záznamu