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de novo assembly pipeline  (BioNano Genomics)

 
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    BioNano Genomics de novo assembly pipeline
    De Novo Assembly Pipeline, supplied by BioNano Genomics, 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/de+novo+pipeline/de+novo+assembly+pipeline/pmc10945837__pnas__2317430121__sapp-39-8-7
    Average 90 stars, based on 1 article reviews
    de novo assembly pipeline - by Bioz Stars, 2026-10
    90/100 stars

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    Related Articles

    Variant Assay:

    Article Title: Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma.
    Article Snippet: .. OGM Data Analysis OGM data analysis was performed using the de novo pipeline for cell lines and the rare variant pipeline for tumour samples, both included in the Bionano Solve software (v3.7_20221013_25). .. Data were directly visualised in Bionano Access software (v1.7.2) and used the human genome GRCh37/Hg19 as a reference.

    Software:

    Article Title: Use of Optical Genome Mapping to Detect Structural Variants in Neuroblastoma.
    Article Snippet: .. OGM Data Analysis OGM data analysis was performed using the de novo pipeline for cell lines and the rare variant pipeline for tumour samples, both included in the Bionano Solve software (v3.7_20221013_25). .. Data were directly visualised in Bionano Access software (v1.7.2) and used the human genome GRCh37/Hg19 as a reference.

    other:

    Article Title: Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
    Article Snippet: A homozygous region (ogm[GRCh37]9p24.3p13.3(1_35889394)x2 hmz) in sample BMA10 with referral reason myelodysplastic syndrome / myeloproliferative neoplasms was only detected with the de novo pipeline because the RVA pipeline cannot detect homozygous regions (Bionano, 30110 Rev K).

    Article Title: FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.
    Article Snippet: The intronic expansion in FGF14 was called by Bionano's de novo pipeline as an insertion (Figure 1F) in six of the 14 participants.

    Article Title: FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
    Article Snippet: The intronic expansion in FGF14 was called by Bionano's de novo pipeline as an insertion (Figure ) in six of the 14 participants.



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