Brandon J. Cushman
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View article: Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Open
Purpose The ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specifi…
View article: ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs Open
Purpose Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical …
View article: Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework Open
The RASopathies are a complex group of conditions regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel (RAS EP) assessed published and other publicly available evidence supporting the association of 19 genes with RA…
View article: Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Open
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpret…
View article: ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data Open
ClinVar Miner is a Web-based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render the data more accessible to processes pertaining to conflict resolution of variant…
View article: Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework
Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework Open
The RASopathies are a complex group of diseases regarding phenotype and genetic etiology. The ClinGen RASopathy Expert Panel assessed published and other publicly available evidence supporting the association of 19 genes with RASopathy con…
View article: Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss Open
Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation…
View article: Curating clinically relevant transcripts for the interpretation of sequence variants
Curating clinically relevant transcripts for the interpretation of sequence variants Open
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts, and applied it to 109 hearing loss-associated genes that were divi…