Tag: ClinVar

Promethease report : promethease

Recently purchased a promethease report, and was surprised to find that a significant gene mutation was not included anywhere in the report. Subsequent search, found it had been rated a 0 in terms of magnitude – yet we know this is not the case. Does this report only include known…

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VCV000445854.7 Observations – ClinVar – NCBI

1 SCV000610624.1 Center for Pediatric Genomic Medicine,Children’s Mercy Hospital and Clinics Benign criteria provided,single submitter clinical testing not provided (not provided ) germline 1 SCV000700353.2 Eurofins NTD, LLC Uncertain significance criteria provided,single submitter clinical testing 1 not provided (unknown ) germline 1 Single Heterozygote www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CYP21A2 mixed 1 SCV001137083.1 Mendelics Benign…

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VCV001048762.1 – ClinVar – NCBI

Pathogenic (-) no assertion criteria provided Method: clinical testing Secondary hypothyroidism (Autosomal recessive inheritance) Allele origin: germline Department of Clinical Genetics and Genetic Counseling,Mediscan Systems Accession: SCV001548494.1 Submitted: (Apr 05, 2021) Evidence details Publications PubMed (1) Comment: The p.Ala37LeufsX38 mutation is not reported in the literature so far, however it…

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The structural coverage of the human proteome before and after AlphaFold

Abstract The protein structure field is experiencing a revolution. From the increased throughput of techniques to determine experimental structures, to developments such as cryo-EM that allow us to find the structures of large protein complexes or, more recently, the development of artificial intelligence tools, such as AlphaFold, that can predict…

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CRISPR-Based Therapeutics Blaze an In Vivo Path to the Clinic

Therapeutic applications of genome editing were envisioned at least as early as the mid-1990s, when the first sequence-specific genome editing technologies emerged. Initially, such applications were considered distant prospects, but by 2012, they suddenly seemed near to hand. It was at that time that CRISPR technologies emerged. CRISPR, which stands…

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Bioinformatics Analyst II in Danville, PA for Geisinger

Job Summary Primary accountability is to leverage the organization’s data assets exome sequencing data (>180,000 individuals) from MyCode Community Health Initiative to improve quality, efficiency and generate knowledge specifically in the field of bioinformatics within health research. Performs and supervises complex data extraction, transformation, visualization, and summarization to support Research…

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