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wuxi nextcode clinical sequence analyzer (csa)  (WuXi NextCODE)

 
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    Structured Review

    WuXi NextCODE wuxi nextcode clinical sequence analyzer (csa)
    Wuxi Nextcode Clinical Sequence Analyzer (Csa), supplied by WuXi NextCODE, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/clinic+sequence+analyzer+csa/clinical+sequence+analyzer+and+miner/pmc09296800-22-18-16
    Average 90 stars, based on 1 article reviews
    wuxi nextcode clinical sequence analyzer (csa) - by Bioz Stars, 2026-10
    90/100 stars

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    Related Articles

    Sequencing:

    Article Title: Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways.
    Article Snippet: Hereditary hearing loss (HL) has high genetic and phenotypical heterogeneity including the overlapping and variable phenotypic features.. For sporadic HL without a family history, it is more difficult to indicate the contribution of genetic factors to define a pattern of inheritance.. We assessed the contribution of genetic variants and patterns of inheritance by a family trio-based sequencing and provided new insight into genetics.



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    Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger <t>sequencing</t> showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.
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    Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger <t>sequencing</t> showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.
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    Image Search Results


    Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger sequencing showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.

    Journal: Frontiers in Cellular Neuroscience

    Article Title: The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K Na 1.1/K Na 1.2 Potassium Channel

    doi: 10.3389/fncel.2020.00001

    Figure Lengend Snippet: Clinical and genetic data. (A) Electroencephalographic (EEG) of a proband with epilepsy of infancy with migrating focal seizures (EIMFS; patient A), showing seizures arising from different hemispheres (left: left occipital lobe; right: right frontal lobe). (B) Sanger sequencing showing (red arrow) nonsense variant p.K564* (NM_198503.2:c.1690A>T) in KCNT2 in the proband (patient A) and not in the parents. (C) Sanger sequencing showing (red arrow) frameshift variant p.L48Qfs43 (NM_198503.2:c.143-144 delTA) in KCNT2 in the proband (patient B) and not in the parents.

    Article Snippet: DNA from patient A were screened by WES and analyzed by Clinical Sequencing Analyzer (CSA of WuXiNextCODE).

    Techniques: Sequencing, Variant Assay