Evidence map›Paper›PMID 38649458›Full record

ReviewNature reviews. Genetics2024

Genome assembly in the telomere-to-telomere era.

Heng Li, Richard Durbin

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 166 papers.

0numbers the graph read from it
0cells of the map it votes in
166citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

166 citing papers in PubMed.

  1. Article
  2. Article
  3. Telomere-to-Telomere Genome Assemblies ofJournal of fungi (Basel, Switzerland) · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Germline hypomethylation shapes dynamic CpG reservoirs in ape genomes.bioRxiv : the preprint server for biology · 2026
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Review

106 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors.

Heng LiDepartment of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA. hli@ds.dfci.harvard.edu.ORCID 0000-0003-4874-2874
Richard DurbinDepartment of Genetics, Cambridge University, Cambridge, UK. rd109@cam.ac.uk.ORCID 0000-0002-9130-1006

Funding

Next Generation Computational Tools for Functional GenomicsR01HG011139 · NHGRI · DANA-FARBER CANCER INST · PI IRIZARRY, RAFAEL ANGEL · 2020 to 2024
$3.5M
NHGRI NIH HHS R01 HG011139
6 · The paper itself

Abstract

Genome sequences largely determine the biology and encode the history of an organism, and de novo assembly - the process of reconstructing the genome sequence of an organism from sequencing reads - has been a central problem in bioinformatics for four decades. Until recently, genomes were typically assembled into fragments of a few megabases at best, but now technological advances in long-read sequencing enable the near-complete assembly of each chromosome - also known as telomere-to-telomere assembly - for many organisms. Here, we review recent progress on assembly algorithms and protocols, with a focus on how to derive near-telomere-to-telomere assemblies. We also discuss the additional developments that will be required to resolve remaining assembly gaps and to assemble non-diploid genomes.

Indexed as

TelomereAlgorithmsAnimalsComputational BiologyGenomeGenomicsHigh-Throughput Nucleotide SequencingHumansSequence Analysis, DNA

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.