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You searched for: Author/Creator Nelson, Tristan- Nelson, Tristan [remove] 4
- 616.04205 2
- Human chromosome abnormalities -- Periodicals 2
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- ClinGen -- ClinVar -- CNV discrepancy -- dosage sensitivity -- variant interpretation 1
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- Genome sequencing -- Exome sequencing -- Clinical genome sequencing -- Clinical exome sequencing -- ACMG guidelines -- ClinVar -- ClinGen -- Clinical Genome Resource -- Knowledge commons -- Data commons -- Data sharing -- Linked Data -- Big Data 1
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- HGVS representation -- linked data -- pathogenicity of genetic variants -- variant centric resources -- variant identifiers 1