@pwhmolhaem
For PWH internal use only. Updated by Rabi (20241224)
CUHK OneDrive
CUHK OneDrive
GNS testcode
GNS testcode
EQAP
GenQA- Genomics Quality Assessment Authentication
GenQA- Genomics Quality Assessment Authentication
For variant interpretation
QIAGEN Digital Insights – Login (QCI)
QIAGEN Digital Insights – Login (QCI)
Sequence Variant Interpretation - ClinGen | Clinical Genome Resource
Sequence Variant Interpretation - ClinGen | Clinical Genome Resource
VarSome The Human Genomics Community
VarSome The Human Genomics Community
ANNOVAR Documentation
ANNOVAR Documentation
Documentation for ANNOVAR software
Databases for variant curation
Myeloid Malignancy Variant Curation Expert Panel - ClinGen | Clinical Genome Resource
Myeloid Malignancy Variant Curation Expert Panel - ClinGen | Clinical Genome Resource
The Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) curates variants in genes associated with inherited risk for myeloid malignancies. Our panel considers variants in genes that cause life-long thrombocytopenia (e.g., RUNX1, ANKRD26, and ETV6) as well as those associated only with cancer risk (e.g., GATA2, DDX41 and CEBPA). The MM-VCEP has collaborated with ASH, and is currently supported by the National Cancer Institute. We aim to encourage standardized variant curation, which will improve variant reporting and facilitate optimal treatment of patients and their families.
Evidence Repository - Clinical Genome Resources
Evidence Repository - Clinical Genome Resources
Redmine
Cancer Hotspots
Cancer Hotspots
Search Variants in ClinGen Allele Registry
Search Variants in ClinGen Allele Registry
Redmine
CanVIG-UK Gene Specific Recommendations | CanGene-CanVar
CanVIG-UK Gene Specific Recommendations | CanGene-CanVar
The TP53 Database | ISB-CGC
The TP53 Database | ISB-CGC
(Germline) LOVD - An Open Source DNA variation database system
(Germline) LOVD - An Open Source DNA variation database system
COSMIC - Catalogue of Somatic Mutations in Cancer
COSMIC - Catalogue of Somatic Mutations in Cancer
cBioPortal for Cancer Genomics
cBioPortal for Cancer Genomics
LitVar2 - NCBI - NLM - NIH
LitVar2 - NCBI - NLM - NIH
bibliome.ai
bibliome.ai
Databases for population frequency
dbSNP - NCBI
dbSNP - NCBI
gnomAD
gnomAD
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
Fusion database
ChimerDB
ChimerDB
Mitelman Database: Chromosome Aberrations and Gene Fusions in Cancer
Mitelman Database: Chromosome Aberrations and Gene Fusions in Cancer
FusionGDB 2.0: fusion gene annotation update aided by deep learning
FusionGDB 2.0: fusion gene annotation update aided by deep learning
FGviewer: a tool for visualizing functional features of human fusion gene
FGviewer: a tool for visualizing functional features of human fusion gene
fusioncatcher [description]
fusioncatcher [description]
Star Fusion [annots]
Star Fusion [annots]
UCSC Genome Browser
Human hg19
Human hg19
Human hg38
Human hg38
View on mobile
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