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

BACKGROUND: Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of...

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Vydáno v:Genome Med
Hlavní autoři: Homburger, Julian R., Neben, Cynthia L., Mishne, Gilad, Zhou, Alicia Y., Kathiresan, Sekar, Khera, Amit V.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6880438/
https://ncbi.nlm.nih.gov/pubmed/31771638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0682-2
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