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deep intronic variants  (Sophia Genetics)


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    Sophia Genetics deep intronic variants
    Deep Intronic Variants, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 1558 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/deep+intronic+variants/Alamut+Visual+Plus/pm37237386-101-14-22
    Average 97 stars, based on 1558 article reviews
    deep intronic variants - by Bioz Stars, 2026-09
    97/100 stars

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    Related Articles

    In Silico:

    Article Title: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
    Article Snippet: .. The MT-D Table 3 In silico prediction scores for the splice sites of two deep intronic variants assessed in this study by Alamut® Visual The higher the score, the higher the credibility, “–” no predictive splicing sites Variant Position 3′/5′ SSFL (0–100) Max EntScan (0–12) NNSPLICE (0–1) GeneSplicer (0–21) Branch points (0–100) WT Mut WT Mut WT Mut WT Mut WT Mut c.706+531T>C c.706+534 3′ – - 7.6 8.1 1.0 1.0 – – – – c.706+530 3′ – – – – – – – – 67.7 70.9 c.706+532 3′ – – – – – – – – 52.7 59.3 c.706+608A>C c.706+601 5′ – – – – 0.7 0.8 – – – – c.706+613 3′ – – – – – – – – 66.5 69.7 c.706+614 3′ – – – – – – – – 46.3 48.8 Fig. 2 In Silico prediction of deep intronic variants. ..

    Variant Assay:

    Article Title: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
    Article Snippet: .. The MT-D Table 3 In silico prediction scores for the splice sites of two deep intronic variants assessed in this study by Alamut® Visual The higher the score, the higher the credibility, “–” no predictive splicing sites Variant Position 3′/5′ SSFL (0–100) Max EntScan (0–12) NNSPLICE (0–1) GeneSplicer (0–21) Branch points (0–100) WT Mut WT Mut WT Mut WT Mut WT Mut c.706+531T>C c.706+534 3′ – - 7.6 8.1 1.0 1.0 – – – – c.706+530 3′ – – – – – – – – 67.7 70.9 c.706+532 3′ – – – – – – – – 52.7 59.3 c.706+608A>C c.706+601 5′ – – – – 0.7 0.8 – – – – c.706+613 3′ – – – – – – – – 66.5 69.7 c.706+614 3′ – – – – – – – – 46.3 48.8 Fig. 2 In Silico prediction of deep intronic variants. ..



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    Image Search Results


    Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).

    Journal: Genes

    Article Title: Uncovering Missing Heritability in Rare Diseases

    doi: 10.3390/genes10040275

    Figure Lengend Snippet: Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).

    Article Snippet: Lionel et al. 2 , 2018 , OTC , Ornithine transcarbamylase deficiency , Deep intronic variant , Illumina , [ ] .

    Techniques: Sequencing, Variant Assay, Translocation Assay