Analysis pipeline for the detection of mutations causative of rare diseases on whole exome sequencing data
Abstract
In this poster, a whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseasesis 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.
Full Text:
PDFDOI: https://doi.org/10.14806/ej.19.A.647
Refbacks
- There are currently no refbacks.