Bryan Wulf
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View article: P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar
P220: The ClinGen Variant Curation Interface (VCI) to support direct submission and tracking of submissions to ClinVar Open
View article: ClinGen’s Variant Curation Interface (VCI) imports evidence data in standard formats via the Linked Data Hub (LDH)
ClinGen’s Variant Curation Interface (VCI) imports evidence data in standard formats via the Linked Data Hub (LDH) Open
The NIH-funded Clinical Genome Resource Consortium (ClinGen) has developed a suite of tools that support variant classification. Several of these tools focus on the application of evidence criteria and classification of variants based on …
View article: Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms Open
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, re…
View article: ClinGen’s Variant Curation Interface (VCI)
ClinGen’s Variant Curation Interface (VCI) Open
View article: P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)
P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI) Open
View article: Batch ClinVar submission in ClinGen's Variant Curation Interface (VCI)
Batch ClinVar submission in ClinGen's Variant Curation Interface (VCI) Open
View article: ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines Open
Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comp…
View article: Evaluating the impact of in silico predictors on clinical variant classification
Evaluating the impact of in silico predictors on clinical variant classification Open
View article: Evaluating the impact of<i>in silico</i>predictors on clinical variant classification
Evaluating the impact of<i>in silico</i>predictors on clinical variant classification Open
Background In silico evidence is important to consider when interpreting genetic variants. According to the ACMG/AMP, in silico evidence is applied at the supporting strength level using the PP3 and BP4 criteria, for pathogenic and benign …
View article: ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines
ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines Open
Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comp…
View article: LitGen: Genetic Literature Recommendation Guided by Human Explanations
LitGen: Genetic Literature Recommendation Guided by Human Explanations Open
As genetic sequencing costs decrease, the lack of clinical interpretation of variants has become the bottleneck in using genetics data. A major rate limiting step in clinical interpretation is the manual curation of evidence in the genetic…
View article: LitGen: Genetic Literature Recommendation Guided by Human Explanations
LitGen: Genetic Literature Recommendation Guided by Human Explanations Open
As genetic sequencing costs decrease, the lack of clinical interpretation of variants has become the bottleneck in using genetics data. A major rate limiting step in clinical interpretation is the manual curation of evidence in the genetic…