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massive parallel sequencing  (Complete Genomics Inc)


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    Complete Genomics Inc massive parallel sequencing
    Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), <t>sequencing</t> methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
    Massive Parallel Sequencing, supplied by Complete Genomics Inc, used in various techniques. Bioz Stars score: 99/100, based on 483 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/massive parallel sequencing/product/Complete Genomics Inc
    Average 99 stars, based on 483 article reviews
    massive parallel sequencing - by Bioz Stars, 2026-04
    99/100 stars

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    1) Product Images from "Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping"

    Article Title: Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

    Journal: Sultan Qaboos University Medical Journal

    doi: 10.18295/2075-0528.2963

    Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .
    Figure Legend Snippet: Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

    Techniques Used: Variant Assay, Sequencing, Functional Assay, Activation Assay



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    Image Search Results


    Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

    Journal: Sultan Qaboos University Medical Journal

    Article Title: Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping

    doi: 10.18295/2075-0528.2963

    Figure Lengend Snippet: Genetic and clinical summary of KBG syndrome. Genetic findings (left panel) showing variant characteristics (c.1977C>G; p.Tyr659Ter), American College of Medical Genetics and Genomics classification (PVS1, PM2, PP5), sequencing methodology and ANKRD11 protein structure with functional domains. The schematic illustrates the location of the truncating variant at position 659, resulting in loss of 75% of the protein including the repression domain, activation domain and C-terminal region. Clinical summary (right panel) consolidating developmental milestones, growth parameters, clinical features across multiple systems, key investigations and management outcomes after 24 months of follow-up. RD = repression domain; AD = activation domain .

    Article Snippet: Massive parallel sequencing was conducted on the DNBSEQ-G400 platform (MGI).

    Techniques: Variant Assay, Sequencing, Functional Assay, Activation Assay