Evaluating drug targets through human loss-of-function genetic variation - PubMed (original) (raw)

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• Stopped clinical trials give evidence for the value of genetics.
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• Improving estimates of loss-of-function constraint for short genes.
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• Modulation of prion protein expression through cryptic splice site manipulation.
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• Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.
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