HGMD Prof VCF Download, Clinical Use

Information

15 - Voluntary ex ante transparency notice
7/1/2019 9:33 AM (GMT+02:00)

Buyer

Nationalt Genom Center Nationalt Genom Center
Alexi Burns-Tang or Cathrine Jespersgaard, Direct phone: +45 3046 1850 Mail: cje@ngc.dk
Ørestads Boulevard 5
2300 Copenhagen
Denmark
39851490

Assignment text

HGMD is the golden standard database when evaluating genetic variants. It contains curated information for published human inherited disease mutations. The information collected in this database is crucial when evaluating genetic variants in a patient. No other database is available as a VCF file ready for annotation of the identified variants in a patients genome.

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