Article

Population-haplotype models for mapping and tagging structural variation using whole genome sequencing

2018-01-01

Abstract excerpt

The scientific interest in copy number variation (CNV) is rapidly increasing, mainly due to the evidence of phenotypic effects and its contribution to disease susceptibility. Single nucleotide polymorphisms (SNPs) which are abundant in the human genome have been widely investigated in genome-wide association studies (GWAS). Despite the notable genomic effects both CNVs and SNPs have, the correlation between them h...

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Literature Corpus work: eedd6455-c838-58da-94ab-efb305bcf7ce
DOI: 10.25560/72185

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