Open AccessAnalysis workflow for the identification allelic variants associated with rare disorders using whole genome sequencing approach
Author(s) -
Vincenza Maselli,
Davide Cittaro,
Elia Stupka
Publication year - 2012
Publication title -
embnet journal
Language(s) - English
Resource type - Journals
ISSN - 2226-6089
DOI - 10.14806/ej.18.a.436
Subject(s) - indel , reference genome , whole genome sequencing , cancer genome sequencing , genetics , genome , exome sequencing , 1000 genomes project , dna sequencing , computational biology , biology , single nucleotide polymorphism , snp array , dbsnp , snp , tag snp , genomics , gene , genotype , mutation