pathogenic-variants topic

List pathogenic-variants repositories

CharGer

94
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37
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Characterization of Germline variants

cacao

21
Stars
3
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Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer

cpsr

54
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12
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Cancer Predisposition Sequencing Reporter (CPSR)

pathoscore

21
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7
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pathoscore evaluates variant pathogenicity tools and scores.

Postre

19
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1
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POSTRE: Prediction Of STRuctural variant Effects