ArticleNature communications2026
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.
Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Special Issue "Human Traits and Genomics: An Integrative Perspective".International journal of molecular sciences · 2026Article
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- A telomere-to-telomere map of somatic mutation burden and functional impact in cancer.bioRxiv : the preprint server for biology · 2025Article
- Pangenome discovery of missing autism variants.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
- Update of
Authors and funding
12 authors.
Funding
Abstract
Long-read sequencing improves sensitivity to discover variation in complex repetitive regions, assign parent-of-origin, and distinguish germline from postzygotic mutations. We applied Illumina, Oxford Nanopore Technologies, and PacBio sequencing to discover and validate de novo mutations in 73 children from 42 autism families (157 individuals). We assay 2.77 Gbp of the human genome, yielding on average 95 de novo mutations per transmission (87.5 single-nucleotide substitutions, 7.8 indels), with no significant difference in mutation rate or profile between probands and their unaffected siblings. Long reads increase de novo mutation discovery by 20-40% and double the mutations classified as early embryonic. The germline mutation rate is 1.30×10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.