Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions of disease risk and trait variation in the general...
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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TN_cdi_doaj_primary_oai_doaj_org_article_96dda06cd3764488a3d966497943e622
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96dda06cd3764488a3d966497943e622
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-12869-0
