ReviewAmerican journal of human genetics2023
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.
Review in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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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.
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Who cites it
20 citing papers in PubMed.
- The promise of long-read RNA-seq: reducing bias in analyses of allele imbalance.NAR genomics and bioinformatics · 2026Article
- Automatic generation of model sequences for complex regions in assembly graphs with TTT.Cell genomics · 2026Article
- Unconventional centromere architectures in Tapirus indicus reveal hotspots for satellite-free centromere formation in Perissodactyla.Communications biology · 2026Article
- Strand-seq and the future of personalized genomics.Nature genetics · 2026Review
- Automatic Generation of Model Sequences for Complex Regions in Assembly Graphs.bioRxiv : the preprint server for biology · 2026Article
- Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus.bioRxiv : the preprint server for biology · 2026Article
- Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.bioRxiv : the preprint server for biology · 2026Article
- Power and Limitations of Inferring Genetic Ancestry.Annals of human genetics · 2025Review
- Article
- CENP-A and centromere evolution in equids.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Review
- Unraveling the hidden complexity of cancer through long-read sequencing.Genome research · 2025Review
- Structural polymorphism and diversity of human segmental duplications.Nature genetics · 2025Article
- Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.Journal of medical genetics · 2024Article
- The Notable Role of Telomere Length Maintenance in Complex Diseases.Biomedicines · 2024Review
- Integrating evolutionary genomics of forest trees to inform future tree breeding amid rapid climate change.Plant communications · 2024Review
- Large-scale genomic analysis of the domestic dog informs biological discovery.Genome research · 2024Review
- The value of hybrid genomes: Building two highly contiguous reference genome assemblies to advance Canis genomic studies.The Journal of heredity · 2024Article
- Toward telomere-to-telomere cat genomes for precision medicine and conservation biology.Genome research · 2024Review
- Structural polymorphism and diversity of human segmental duplications.bioRxiv : the preprint server for biology · 2024Article
- Emerging trends in pharmacogenomics: from common variant associations toward comprehensive genomic profiling.Human genomics · 2023Article
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Authors and funding
2 authors.
Funding
Abstract
Advances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased telomere to telomere, will become standard in human genetics. Soon, even in clinical settings where rigorous sample-handling standards must be met, affected individuals could have reference-grade genomes fully sequenced and assembled in just a few hours given advances in technology, computational processing, and annotation. Complete genetic variant discovery will transform how we map, catalog, and associate variation with human disease and fundamentally change our understanding of the genetic diversity of all humans.
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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 OpenQuestion graph.