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Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0682-2
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- Article
Genomic Insights into the Ancestry and Demographic History of South America.
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- PLoS Genetics, 2015, v. 11, n. 12, p. 1, doi. 10.1371/journal.pgen.1005602
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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-17374-3
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- Article
Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders.
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- Science Translational Medicine, 2024, v. 16, n. 730, p. 1, doi. 10.1126/scitranslmed.adf1691
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- Article