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HGMD And ClinVar: Avoiding The Knowledge Blind Spot.pdf

PROM-11650-001_WP_BIOX_HGMD_ClinVar_1117_WW.pdf
Preview of HGMD and ClinVar: Avoiding the Knowledge Blind Spot
🔗 Source: resources.qiagenbioinformatics.com
📊 Size: 235 KB
📄 Pages: 4 pages
⬇️ Downloads: 74

Summary

A mother sued Athena Diagnostics after her son Christian died from a seizure related to Dravet syndrome, which could have been avoided if a genetic mutation had been correctly classified earlier. The case highlights the issue of "knowledge blind spots" in genetic testing, where valuable information goes undetected due to inadequate mining and interpretation mechanisms. The Human Genome Mutation Database (HGMD) and ClinVar are two databases used in genetic testing, but they are not equal, with HGMD being the gold standard for comprehensive coverage of published germ-line human inherited disease mutations. HGMD contains significantly more genes and clinically relevant variants than ClinVar, with over 208,000 different lesions detected in over 8,000 different genes, and has a rigorous quality assurance procedure to ensure accuracy.

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Description

A mother sued Athena Diagnostics after her son Christian died from a seizure related to Dravet syndrome, which could have been avoided if a genetic mutation...

Technical Information

  • File Format: PDF
  • File Size: 235 KB
  • Pages: 4
  • Language: EN
  • Total Downloads: 74
  • Last Updated: 7 hours ago

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This PDF document about HGMD and ClinVar: Avoiding the Knowledge Blind Spot provides comprehensive information and guidance. Whether you're a beginner or advanced user, this resource offers valuable insights into HGMD and ClinVar: Avoiding the Knowledge Blind Spot.

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HGMD guideHGMD tutorialClinVar: guideClinVar: tutorialAvoiding guideAvoiding tutorialKnowledge guideKnowledge tutorialBlind guideBlind tutorialSpot guideSpot tutorial

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