Over 2,800 instances, representing a 31% enhance, added to BGI Genomics-led CardioGen’s hereditary heart problems gene information.
Picture Credit score: BGI Genomics
BGI Genomics, along with the Nationwide Heart for Cardiovascular Ailments, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Ailments, is happy to announce an improve of the CardioGen automated interpretation system, the “Genotype and Phenotype Database of Monogenic Cardiovascular Illness.” This improve covers the addition of over 2,800 instances from the preliminary 9,000 instances, overlaying monogenic hereditary hypertension, cardiac ion channel illness, and pulmonary arterial hypertension.
The cardiomyopathy (hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) element of CardioGen was launched in January 2023.
CardioGen comprehensively collects and integrates info on the variant loci of disease-causing genes reported within the international literature and public databases, in addition to scientific phenotypes of sufferers, to facilitate correct interpretation of the variant loci by clinicians as soon as the genetic take a look at outcomes can be found. As this database grows, clinicians could make extra correct scientific interpretations after receiving genetic take a look at outcomes.
​​​​​​​Picture Credit score: BGI Genomics​​​​​​​
System Highlights
1. Visible show
The database is printed on an internet site, offering a search operate for genes and gene locus, offering a visible show of such info with the addition of phenotype.
2. Extra handy scientific utility and evaluation
In contrast with different databases, CardioGen additionally consists of the scientific phenotypes of sufferers with monogenic cardiovascular ailments carrying pathogenic variants and gives extra scientific reference info for genetic analysis.
3. Extra considerable information sources
Apart from the genetic info and scientific phenotypes of monogenic cardiovascular ailments reported in English literature, CardioGen additionally gives publicly obtainable info and analysis information in Chinese language literature to reinforce the reliability of genetic testing information for sufferers worldwide.
4. Extra correct web site interpretation
Based mostly on the standardized variant interpretation pointers collectively printed by the American School of Medical Genetics & Genomics (ACMG) and the Affiliation for Molecular Pathology (AMP) in 2015, the workforce of consultants personalized site-specific interpretation guidelines for monogenic cardiovascular ailments, used info collected within the database of genetic variants and aggregated scientific info. CardioGen automated the interpretation course of, presenting correct outcomes appropriate for scientific use.
As well as, as genotype-phenotype affiliation info will get consistently up to date, the system will robotically replace the loci interpretation outcomes to reinforce accuracy additional.
Upgraded and optimized content material
​​​​​​​Picture Credit score: BGI Genomics
1. Enlargement of illness classes
Based mostly on the database of cardiomyopathies, three new classes of monogenic hereditary cardiovascular ailments have been added:
- Monogenic genetic hypertension: together with Liddle syndrome, Gordon syndrome, episodic salpingitis;
- Cardiac ion channel illness: together with lengthy QT syndrome, quick QT syndrome, Brugada syndrome;
- Pulmonary arterial hypertension. The upgraded database has extra complete protection of illness classes and richer genotypic associations by keyword-based literature searches and handbook phenotype extraction.
2. Extra instances and a extra complete phenotype
Based mostly on the brand new ailments and key phrases gathered from related genes, the researchers performed a literature search within the Chinese language and English databases, learn, filtered, and extracted the associations between genetic loci and phenotypes. This replace provides greater than 2,800 instances from the literature and customizes completely different case phenotype show pages for numerous ailments to make the affiliation between genetic info and phenotype info extra correct.
3. Database enlargement and replace
Together with the rise in illness varieties, the variety of related pathogenic genes has elevated from 21 to 59, and the variety of included Clinvar loci has elevated from practically 50,000 to just about 90,000, with richer searchable contents. The annotated database focuses on the content material of the Clinvar database, and this replace additionally upgrades the model of the Clinvar database to 20230318, with extra correct pathogenicity info.
We welcome clinicians to test-drive the CardioGen web site.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world’s main built-in options supplier of precision drugs. Our companies cowl over 100 nations and areas, involving greater than 2,300 medical establishments. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was formally listed on the Shenzhen Inventory Change.
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