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seqscape analysis software v2.5  (Thermo Fisher)


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    Structured Review

    Thermo Fisher seqscape analysis software v2.5
    Seqscape Analysis Software V2.5, supplied by Thermo Fisher, 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/seqscape+analysis+software+v2%2E5/seqscape+software/pmc11381512-172-8-12
    Average 90 stars, based on 1 article reviews
    seqscape analysis software v2.5 - by Bioz Stars, 2026-09
    90/100 stars

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    Related Articles

    Sequencing:

    Article Title: The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.
    Article Snippet: Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect.. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in folate metabolism and thus may influence the risk of such heart defects.. This study was designed to investigate the association of six selected folate-metabolizing gene polymorphisms with the risk of non-syndromic CTHDs in an Indian population.

    Article Title: NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
    Article Snippet: Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups.. Most NF1 patients have private loss-of-function mutations scattered along the NF1 gene.. Here, we present an original NF1 investigation strategy and report a comprehensive mutation analysis of 565 unrelated patients from the NF-France Network.

    Article Title: Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
    Article Snippet: 24 Sequences were aligned with SeqScape analysis software v2.5 (Thermo Fisher Scientific) and were compared with the corresponding genomic DNA reference sequence on the Human December 2013 GRCh38 assembly.

    Article Title: Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
    Article Snippet: Sequences were aligned on the reference sequence with Seqscape analysis software v2.5 (Thermo Fisher Scientific).

    Article Title: Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
    Article Snippet: Sequences were aligned to the reference sequence with SeqScape analysis software v2.5 (Thermo Fisher Scientific).

    Software:

    Article Title: The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.
    Article Snippet: Conotruncal heart defects (CTHDS) are a subgroup of congenital heart malformations that are considered to be a folate-sensitive birth defect.. It has been hypothesized that polymorphisms in genes that code for key enzymes in the folate pathway may alter enzyme activity, leading to disruptions in folate metabolism and thus may influence the risk of such heart defects.. This study was designed to investigate the association of six selected folate-metabolizing gene polymorphisms with the risk of non-syndromic CTHDs in an Indian population.

    Article Title: NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
    Article Snippet: Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups.. Most NF1 patients have private loss-of-function mutations scattered along the NF1 gene.. Here, we present an original NF1 investigation strategy and report a comprehensive mutation analysis of 565 unrelated patients from the NF-France Network.

    Article Title: Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
    Article Snippet: 24 Sequences were aligned with SeqScape analysis software v2.5 (Thermo Fisher Scientific) and were compared with the corresponding genomic DNA reference sequence on the Human December 2013 GRCh38 assembly.

    Article Title: Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
    Article Snippet: Sequences were aligned on the reference sequence with Seqscape analysis software v2.5 (Thermo Fisher Scientific).

    Article Title: Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
    Article Snippet: Sequences were aligned to the reference sequence with SeqScape analysis software v2.5 (Thermo Fisher Scientific).



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