Home › Categories › Science & Nature› HGMD And ClinVar: Avoiding The Knowledge Blind Spot

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: 73

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.

Download File

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: 73
  • Last Updated: 8 hours ago

Document Overview

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.

Related Topics

If you're interested in HGMD and ClinVar: Avoiding the Knowledge Blind Spot, you might also want to explore:

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

Related Categories

Business & Finance
41204 documents
Education & Learning
22711 documents
Health & Wellness
8956 documents
Technology
4783 documents

Related Documents

Preview of Switches Catalog
PDF file

Switches Catalog

12.1 MBPeter WoodEN391 pages
Planar Monolithics Industries, Inc.
Download
Preview of Blind Spot Warning Using Deep Learning
PDF file

Blind Spot Warning Using Deep Learning

5.5 MBEN60 pages
The system aims to reduce traffic accidents by monitoring and detecting moving objects in blind spots.
Download
Preview of Avoiding the Rapids: Navigating the Energy Crisis with Care and Knowledge
PDF file

Avoiding the Rapids: Navigating the Energy Crisis with Care and Knowledge

119 KBKate BainEN4 pages
Document en en
Download
Preview of Blind Men
PDF file

Blind Men

362 KBWang SingYiEN1 page
It is used to describe situations where people have different interpretations due to limited perspectives.
Download
Preview of Sweeteners Knowledge
PDF file

Sweeteners Knowledge

816 KBUserEN12 pages
The study examined the relationship between knowledge of sweeteners and factors such as place of residence, education, sex, age, and body mass index...
Download

Download HGMD and ClinVar: Avoiding the Knowledge Blind Spot eBooks for free and learn more about HGMD and ClinVar: Avoiding the Knowledge Blind Spot. These books contain exercises and tutorials to improve your practical skills, at all levels!

Not satisfied with this document? We have related documents to HGMD and ClinVar: Avoiding the Knowledge Blind Spot, try searching with similar keywords: HGMD and ClinVar: Avoiding the Knowledge Blind Spot, Human Genome Mutation Database Hgmd, Avoiding the Rapids: Navigating the Energy Crisis with Care and Knowledge, Adam Faucett Blind Water Finds Blind Water 2014 , Bible Blind Leading The Blind, Blind Leading The Blind Meaning, Blind Leading The Blind Parable, Blind Leading The Blind References

You can download PDF versions of the user's guide, manuals and ebooks about HGMD and ClinVar: Avoiding the Knowledge Blind Spot, you can also find and download for free A free online manual (notices) with beginner and intermediate, Downloads Documentation, You can download PDF files (or DOC and PPT) about HGMD and ClinVar: Avoiding the Knowledge Blind Spot for free, but please respect copyrighted ebooks.