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Paper Details

Quantifying single nucleotide variant detection sensitivity in exome sequencing.
BMC Bioinformatics
59
2013
Non, SNV, cancer, exome, exon, gene, genomic regions, heterozygous SNV, homozygous SNV, nucleotide, polymorphic site, rare disease, rare diseases, reference alleles, single nucleotide variant, target sequences
Author NameAffiliation
Alison MeynertMRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital
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Datasets

Release 1.2