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A. Example IGV views of a germline and postzygotic mutation in <t>HiFi</t> 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.
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A. Example IGV views of a germline and postzygotic mutation in <t>HiFi</t> 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.
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A. Example IGV views of a germline and postzygotic mutation in <t>HiFi</t> 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.
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A. Example IGV views of a germline and postzygotic mutation in <t>HiFi</t> 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.
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long-read sequencing data  (Oxford Nanopore)
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A. Example IGV views of a germline and postzygotic mutation in <t>HiFi</t> 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.
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oxford nanopore long-read sequencing data  (Oxford Nanopore)
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Oxford Nanopore oxford nanopore long-read sequencing data
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