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Add HGMD support #577

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jtarraga opened this issue Feb 23, 2022 · 0 comments
Open

Add HGMD support #577

jtarraga opened this issue Feb 23, 2022 · 0 comments
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CellBase should support HGMD, i.e., the Human Gene Mutation Database that represents an attempt to collate all known (published) gene lesions responsible for human inherited disease. This clinical variant information will be included in the variant annotation data model together with ClinVar, COSMIC, IARC TP53 and DOCM.
@jtarraga jtarraga self-assigned this Feb 23, 2022
jtarraga added a commit that referenced this issue Feb 28, 2022
@jtarraga
lib: add HGMD support, #577
7d3bab8
jtarraga added a commit that referenced this issue Mar 1, 2022
@jtarraga
lib: improve HGDM support, #577
a1343aa
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