Article

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

2019-07-31

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The inherited susceptibility of common, complex diseases may be caused by rare, ‘monogenic’ pathogenic variants or by the cumulative effect of numerous common, ‘polygenic’ variants. As such, comprehensive genome interpretation could involve two distinct genetic testing technologies -- high coverage next generation sequencing for known genes to detect pathogenic variants and...

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Literature Corpus work: 817318e8-cd38-5d80-9029-d91399995132
DOI: 10.1101/716977

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