Analysis 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 , 1000 genomes project , genetics , dna sequencing , cancer genome sequencing , genome , single nucleotide polymorphism , computational biology , exome sequencing , snp , dbsnp , biology , snp array , gene , genotype , mutation
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