Evidence map›Paper›PMID 37671027›Full record

ArticleCell reports methods2023

Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome.

HoJoon Lee, Stephanie U Greer, Dmitri S Pavlichin, Bo Zhou, Alexander E Urban, Tsachy Weissman, Human Pangenome Reference Consortium, Hanlee P Ji

Abstract read
In one paragraph

Article in Cell reports methods, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  4. Article
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

8 authors.

HoJoon LeeDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stephanie U GreerDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Dmitri S PavlichinDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Bo ZhouDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Alexander E UrbanDepartment of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
Tsachy WeissmanDepartment of Electrical Engineering, Stanford University, Palo Alto, CA 94304, USA.
Human Pangenome Reference Consortium
Hanlee P JiDivision of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Funding

ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
K-mer indexing for pan-genome reference annotationU01HG010963 · NHGRI · STANFORD UNIVERSITY · PI JI, HANLEE P, WEISSMAN, TSACHY · 2020 to 2023
$1.3M
A novel method to resolve the complex genome rearrangements of the large copy number variants (CNVs) associated with psychiatric disordersK01MH129758 · NIMH · TEXAS A&M AGRILIFE RESEARCH · PI ZHOU, BO · 2022 to 2025
$718k
NHGRI NIH HHS U01 HG010963NHGRI NIH HHS U01 HG010971NIMH NIH HHS K01 MH129758
6 · The paper itself

Abstract

The human pangenome, a new reference sequence, addresses many limitations of the current GRCh38 reference. The first release is based on 94 high-quality haploid assemblies from individuals with diverse backgrounds. We employed a k-mer indexing strategy for comparative analysis across multiple assemblies, including the pangenome reference, GRCh38, and CHM13, a telomere-to-telomere reference assembly. Our k-mer indexing approach enabled us to identify a valuable collection of universally conserved sequences across all assemblies, referred to as "pan-conserved segment tags" (PSTs). By examining intervals between these segments, we discerned highly conserved genomic segments and those with structurally related polymorphisms. We found 60,764 polymorphic intervals with unique geo-ethnic features in the pangenome reference. In this study, we utilized ultra-conserved sequences (PSTs) to forge a link between human pangenome assemblies and reference genomes. This methodology enables the examination of any sequence of interest within the pangenome, using the reference genome as a comparative framework.

Indexed as

Neoplasms, Squamous CellSkin NeoplasmsConserved SequenceHaploidyHumansPolymorphism, Genetick-merpan-conserved segmentpangenomereference genomestructural polymorphismstructural variations

Identifiers

PMID37671027
PMCPMC10475782

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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.