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long read sequencing data  (Pacific Biosciences)

 
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    Pacific Biosciences long read sequencing data
    Long Read Sequencing Data, supplied by Pacific Biosciences, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/sequencing+data+long+read/pmc12918764-51-21-26?v=Pacific+Biosciences
    Average 86 stars, based on 1 article reviews
    long read sequencing data - by Bioz Stars, 2026-07
    86/100 stars

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    Encoding of example deletions by different <t>sequencing</t> methods. Deletion of chr12 121,792,102–121,792,155 could be detected correctly by all sequencing methods ( A ). Deletion of chr5, 114,989,663–114,999,300 could be detected correctly only by long-read sequencing methods ( B ). Values in brackets represent scores predicted by ConsensuSV-ONT, but only for long-read sequencing.
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    A. Example IGV views of a germline and postzygotic mutation in HiFi read data. B. The number of autosomal de novo germline and postzygotic SNVs, insertions and deletions <50 bp, and tandem repeat mutations observed in each sample. Sibling pairs are grouped by family and highlighted in blue, with the proband above the sibling. C. Upset plot of origin assignment shows concordance between HiFi haplotypes, ONT haplotypes, and allele balance. D. Allele balance distribution for autosomal germline and postzygotic SNVs across PacBio HiFi, Illumina, and ONT read data. E. Distribution of the size of autosomal insertions, deletions, and tandem repeat mutations.

    Journal: bioRxiv

    Article Title: Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA

    doi: 10.1101/2025.07.18.665621

    Figure Lengend Snippet: A. Example IGV views of a germline and postzygotic mutation in HiFi read data. B. The number of autosomal de novo germline and postzygotic SNVs, insertions and deletions <50 bp, and tandem repeat mutations observed in each sample. Sibling pairs are grouped by family and highlighted in blue, with the proband above the sibling. C. Upset plot of origin assignment shows concordance between HiFi haplotypes, ONT haplotypes, and allele balance. D. Allele balance distribution for autosomal germline and postzygotic SNVs across PacBio HiFi, Illumina, and ONT read data. E. Distribution of the size of autosomal insertions, deletions, and tandem repeat mutations.

    Article Snippet: We leveraged long-read Pacific Biosciences high-fidelity (HiFi) sequencing data derived from blood for variant discovery, and both long-read Oxford Nanopore Technologies (ONT) and short-read Illumina data for validation purposes.

    Techniques: Mutagenesis

    Encoding of example deletions by different sequencing methods. Deletion of chr12 121,792,102–121,792,155 could be detected correctly by all sequencing methods ( A ). Deletion of chr5, 114,989,663–114,999,300 could be detected correctly only by long-read sequencing methods ( B ). Values in brackets represent scores predicted by ConsensuSV-ONT, but only for long-read sequencing.

    Journal: Scientific Reports

    Article Title: ConsensuSV-ONT – A modern method for accurate structural variant calling

    doi: 10.1038/s41598-025-01486-1

    Figure Lengend Snippet: Encoding of example deletions by different sequencing methods. Deletion of chr12 121,792,102–121,792,155 could be detected correctly by all sequencing methods ( A ). Deletion of chr5, 114,989,663–114,999,300 could be detected correctly only by long-read sequencing methods ( B ). Values in brackets represent scores predicted by ConsensuSV-ONT, but only for long-read sequencing.

    Article Snippet: The solution is complete in its form and is ready to use not only by computer scientists but accessible and easy to use for everyone working with Oxford Nanopore long-read sequencing data.

    Techniques: Sequencing

    Encoding of merged mutation by different sequencing methods.

    Journal: Scientific Reports

    Article Title: ConsensuSV-ONT – A modern method for accurate structural variant calling

    doi: 10.1038/s41598-025-01486-1

    Figure Lengend Snippet: Encoding of merged mutation by different sequencing methods.

    Article Snippet: The solution is complete in its form and is ready to use not only by computer scientists but accessible and easy to use for everyone working with Oxford Nanopore long-read sequencing data.

    Techniques: Mutagenesis, Sequencing