Evidence map›Paper›PMID 39042999›Full record

ReviewCurrent opinion in genetics & development2024

Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics.

Joana L Rocha, Runyang N Lou, Peter H Sudmant

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025
    Article
  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Joana L RochaDepartment of Integrative Biology, University of California, Berkeley, Berkeley, USA. Electronic address: https://twitter.com/@joanocha.
Runyang N LouDepartment of Integrative Biology, University of California, Berkeley, Berkeley, USA. Electronic address: https://twitter.com/@NicolasLou10.
Peter H SudmantDepartment of Integrative Biology, University of California, Berkeley, Berkeley, USA; Center for Computational Biology, University of California, Berkeley, Berkeley, USA. Electronic address: psudmant@berkeley.edu.

Funding

The evolution and diversity of mutation, molecular fidelity, and genome structureR35GM142916 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI Peter Heshedahl Sudmant · 2021 to 2026
$2.5M
A compendium of complete primate reference genomes to facilitate conservation, genomics, and ecologyR01HG013017 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Erik Garrison, Matthew William Mitchell · 2023 to 2026
$1.9M
NHGRI NIH HHS R01 HG013017NIGMS NIH HHS R35 GM142916
6 · The paper itself

Abstract

Structural variants (SVs) account for the majority of base pair differences both within and between primate species. However, our understanding of inter- and intra-species SV has been historically hampered by the quality of draft primate genomes and the absence of genome resources for key taxa. Recently, advances in long-read sequencing and genome assembly have begun to radically reshape our understanding of SVs. Two landmark achievements include the publication of a human telomere-to-telomere (T2T) genome as well as the development of the first human pangenome reference. In this review, we first look back to the major works laying the foundation for these projects. We then examine the ways in which T2T genome assemblies and pangenomes are transforming our understanding of and approach to primate SV. Finally, we discuss what the future of primate SV research may look like in the era of T2T genomes and pangenomics.

Indexed as

GenomicsPrimatesTelomereAnimalsEvolution, MolecularGenomeGenome, HumanGenomic Structural VariationHumans

Identifiers

PMID39042999
PMCPMC11695101

What OpenQuestion holds

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Registered trials

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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.