(Transcriptional signals of transformation in human cancer - https://doi.org/10.1186/s13073-023-01279-z) -
(Rare copy-number variants as modulators of common disease susceptibility - https://doi.org/10.1186/s13073-023-01265-5) -
(MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach - https://doi.org/10.1186/s13073-023-01274-4) -
(Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease - https://doi.org/10.1186/s13073-023-01277-1)
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