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A. Distribution of distance between pairs of variants, including SNVs and indels, within 500 bp of each other. B. Mutation spectrum of individual de novo mutations (DNMs) and multinucleotide mutations (MnMs), including paired SNV calls within 500 bp of each other. C. An MnM represented in <t>sequencing</t> reads aligned to the T2T-CHM13 reference genome, and in assembled haplotypes from all members of the trio. D. All nine MnMs validated using assembled haplotypes.
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A. Distribution of distance between pairs of variants, including SNVs and indels, within 500 bp of each other. B. Mutation spectrum of individual de novo mutations (DNMs) and multinucleotide mutations (MnMs), including paired SNV calls within 500 bp of each other. C. An MnM represented in sequencing reads aligned to the T2T-CHM13 reference genome, and in assembled haplotypes from all members of the trio. D. All nine MnMs validated using assembled haplotypes.

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. Distribution of distance between pairs of variants, including SNVs and indels, within 500 bp of each other. B. Mutation spectrum of individual de novo mutations (DNMs) and multinucleotide mutations (MnMs), including paired SNV calls within 500 bp of each other. C. An MnM represented in sequencing reads aligned to the T2T-CHM13 reference genome, and in assembled haplotypes from all members of the trio. D. All nine MnMs validated using assembled haplotypes.

Article Snippet: They have been examined for de novo variation before using Illumina whole exome and whole genome sequencing data , , , but were selected for LRS because no genetic (monogenic or polygenic) cause had been previously identified (Sui et al., companion manuscript).

Techniques: Mutagenesis, Sequencing

Genome size estimation of Odontolabis cuvera using GenomeScope.

Journal: Scientific Data

Article Title: A chromosomal-level genome assembly of Odontolabis cuvera Hope, 1842 (Coleoptera: Lucanidae)

doi: 10.1038/s41597-025-05613-5

Figure Lengend Snippet: Genome size estimation of Odontolabis cuvera using GenomeScope.

Article Snippet: The raw sequencing data and genome assembly of Odontolabis cuvera are publicly available through the National Center for Biotechnology Information (NCBI).

Techniques:

Genome-wide chromosomal heatmap of Odontolabis cuvera , with individual chromosomes outlined in blue and contigs outlined in green.

Journal: Scientific Data

Article Title: A chromosomal-level genome assembly of Odontolabis cuvera Hope, 1842 (Coleoptera: Lucanidae)

doi: 10.1038/s41597-025-05613-5

Figure Lengend Snippet: Genome-wide chromosomal heatmap of Odontolabis cuvera , with individual chromosomes outlined in blue and contigs outlined in green.

Article Snippet: The raw sequencing data and genome assembly of Odontolabis cuvera are publicly available through the National Center for Biotechnology Information (NCBI).

Techniques: Genome Wide

Genome characteristics of Odontolabis cuvera . The circular genome plot displays, from the outermost to the innermost ring: (1) chromosome length, (2) GC content, (3) gene density, and (4) the distribution of major transposable elements, including DNA transposons, SINEs, LINEs, LTR retrotransposons, and simple repeats.

Journal: Scientific Data

Article Title: A chromosomal-level genome assembly of Odontolabis cuvera Hope, 1842 (Coleoptera: Lucanidae)

doi: 10.1038/s41597-025-05613-5

Figure Lengend Snippet: Genome characteristics of Odontolabis cuvera . The circular genome plot displays, from the outermost to the innermost ring: (1) chromosome length, (2) GC content, (3) gene density, and (4) the distribution of major transposable elements, including DNA transposons, SINEs, LINEs, LTR retrotransposons, and simple repeats.

Article Snippet: The raw sequencing data and genome assembly of Odontolabis cuvera are publicly available through the National Center for Biotechnology Information (NCBI).

Techniques: