Evidence map›Paper›PMID 39386535›Full record

ArticlebioRxiv : the preprint server for biology2024

The formation and propagation of human Robertsonian chromosomes.

Leonardo Gomes de Lima, Andrea Guarracino, Sergey Koren, Tamara Potapova, Sean McKinney, Arang Rhie, Steven J Solar, Chris Seidel, Brandon Fagen, Brian P Walenz and 10 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Leonardo Gomes de LimaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-6340-6065
Andrea GuarracinoDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0001-9744-131X
Sergey KorenGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-1472-8962
Tamara PotapovaStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-2761-1795
Sean McKinneyStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0002-9740-6247
Arang RhieGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9809-8127
Steven J SolarGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-3051-9009
Chris SeidelStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0001-9218-7922
Brandon FagenStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0009-0004-1045-9285
Brian P WalenzGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8431-1428
Gerard G BouffardNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8744-6440
Shelise Y BrooksNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Michael PetersonStowers Institute for Medical Research, Kansas City, MO, USA.
Kate HallStowers Institute for Medical Research, Kansas City, MO, USA.
Juyun CrawfordGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0006-4430-7751
Alice C YoungNIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Brandon D PickettGenome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-8235-4440
Erik GarrisonDepartment of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.ORCID 0000-0003-3821-631X
Adam M PhillippyStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-2983-8934
Jennifer L GertonStowers Institute for Medical Research, Kansas City, MO, USA.ORCID 0000-0003-0743-3637

Funding

Pangenomics of nicotine abuse in the hybrid rat diversity panelU01DA057530 · NIDA · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI Hao Chen, BURT M SHARP · 2023 to 2026
$2.8M
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
Maintaining the integrity of a genomeR01CA266339 · NCI · STOWERS INSTITUTE FOR MEDICAL RESEARCH · PI JENNIFER L GERTON · 2022 to 2026
$1.9M
NCI NIH HHS R01 CA266339NHGRI NIH HHS R01 HG013017NIDA NIH HHS U01 DA057530
6 · The paper itself

Abstract

Robertsonian chromosomes are a type of variant chromosome found commonly in nature. Present in one in 800 humans, these chromosomes can underlie infertility, trisomies, and increased cancer incidence. Recognized cytogenetically for more than a century, their origins have remained mysterious. Recent advances in genomics allowed us to assemble three human Robertsonian chromosomes completely. We identify a common breakpoint and epigenetic changes in centromeres that provide insight into the formation and propagation of common Robertsonian translocations. Further investigation of the assembled genomes of chimpanzee and bonobo highlights the structural features of the human genome that uniquely enable the specific crossover event that creates these chromosomes. Resolving the structure and epigenetic features of human Robertsonian chromosomes at a molecular level paves the way to understanding how chromosomal structural variation occurs more generally, and how chromosomes evolve.

Identifiers

PMID39386535
PMCPMC11463614

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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.