Evidence map›Paper›PMID 39149342›Full record

ArticlebioRxiv : the preprint server for biology2024

Somatic mutation phasing and haplotype extension using linked-reads in multiple myeloma.

Steven M Foltz, Yize Li, Lijun Yao, Nadezhda V Terekhanova, Amila Weerasinghe, Qingsong Gao, Guanlan Dong, Moses Schindler, Song Cao, Hua Sun and 10 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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

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

20 authors.

Steven M FoltzDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.ORCID 0000-0002-9526-8194
Yize LiDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Lijun YaoDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Nadezhda V TerekhanovaDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Amila WeerasingheDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Qingsong GaoDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Guanlan DongDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Moses SchindlerDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Song CaoDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Hua SunDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Reyka G JayasingheDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Robert S FultonMcDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, 63108, USA.
Catrina C FronickMcDonnell Genome Institute, Washington University in St. Louis, St. Louis, MO, 63108, USA.
Justin KingDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Daniel R KohnenDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Mark A FialaDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Ken ChenDepartment of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
John F DiPersioDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Ravi VijDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.
Li DingDepartment of Medicine, Washington University in St. Louis, St. Louis, MO, 63110, USA.

Funding

WASHINGTON UNIVERSITY HUMAN TUMOR ATLAS RESEARCH CENTERU2CCA233303 · NCI · WASHINGTON UNIVERSITY · PI GILLANDERS, WILLIAM E. · 2018 to 2023
$9.7M
Deep Discovery and Clinical Interpretation of Germline and Somatic Cancer DriversU24CA211006 · NCI · WASHINGTON UNIVERSITY · PI DING, LI, GOVINDAN, RAMASWAMY · 2016 to 2020
$1.8M
NCI NIH HHS U24 CA211006NCI NIH HHS U2C CA233303
6 · The paper itself

Abstract

Somatic mutation phasing informs our understanding of cancer-related events, like driver mutations. We generated linked-read whole genome sequencing data for 23 samples across disease stages from 14 multiple myeloma (MM) patients and systematically assigned somatic mutations to haplotypes using linked-reads. Here, we report the reconstructed cancer haplotypes and phase blocks from several MM samples and show how phase block length can be extended by integrating samples from the same individual. We also uncover phasing information in genes frequently mutated in MM, including

Identifiers

PMID39149342
PMCPMC11326269

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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.