EmVClass

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EmVClass

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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emvclass

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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Other names: emvclass

Emory Genetics Laboratory's (EGL) Variant Classification Catalog contains variants of the gene of interest that has been seen and analysed by EGL Genetics.

Webpage:

Publications:

Publications

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Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data
PMID: 23757202

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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• Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data PubMed citations: 26.

  26 articles citing: Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data

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  The role of junctophilin proteins in cellular function. PMID:35001666

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  Increased Tumor Growth Rate and Mesenchymal Properties of NSCLC-Patient-Derived Xenograft Models during Serial Transplantation. PMID:34198671

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  Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. PMID:33250842

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  Function and therapeutic potential of G protein-coupled receptors in epididymis. PMID:32901914

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  Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. PMID:31738409

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  Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. PMID:30977563

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  The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. PMID:30951675

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  Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. PMID:30564623

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  Clinically Excellent Use of the Electronic Health Record: Review. PMID:30291099

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  Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. PMID:29557500

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  Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. PMID:29473246

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  Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. PMID:29254502

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  PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. PMID:28438193

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  Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance. PMID:28415857

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  Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. PMID:28165634

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  Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. PMID:28160152

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  Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis. PMID:27858740

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  Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine. PMID:27843123

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  Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. PMID:27308838

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  High-performance web services for querying gene and variant annotation. PMID:27154141

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  Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine. PMID:26931283

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  A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. PMID:26467025

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  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. PMID:25741868

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  Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. PMID:25569433

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  Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. PMID:25503495

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  A novel clinician interface to improve clinician access to up-to-date genetic results. PMID:24013137

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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population genetics

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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rare diseases

metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:58.148487

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genetic variation population genetics rare diseases