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Das, Soma
One or more keywords matched the following items that are connected to Das, Soma
Item TypeName
Concept Genetic Testing
Academic Article Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR.
Academic Article Technical standards and guidelines: molecular genetic testing for ultra-rare disorders.
Academic Article NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Academic Article Clinical utility gene card for: Centronuclear and myotubular myopathies.
Academic Article Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.
Academic Article Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Academic Article Disclosure of genetic research results to members of a founder population.
Academic Article 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.
Academic Article Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing.
Academic Article A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Academic Article Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Academic Article Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Academic Article Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Academic Article Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Academic Article Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
Academic Article The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
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  • Genetic Testing