Evidence map›Paper›PMID 41282657›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Constellation illuminates rare disease genetics.

Siyuan Cheng, Qing Zhang, Xinchang Zheng, Shalini Jhangiani, Jacqueline C Weir, Jesse R Farek, Heer H Mehta, Ziad M Khan, Yi Han, Huyen H Dinh and 10 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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.

Siyuan ChengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0009-0006-1008-1336
Qing ZhangIllumina, Inc., San Diego, CA, USA.ORCID 0009-0000-3861-9827
Xinchang ZhengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5739-861X
Shalini JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-6674-0074
Jacqueline C WeirIllumina, Inc., San Diego, CA, USA.
Jesse R FarekHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-4939-8083
Heer H MehtaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-5357-2112
Ziad M KhanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-2173-9771
Yi HanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-7605-8979
Huyen H DinhHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Kerstin P BlankenburgHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-4814-6765
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-1356-5698
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Claudia M B CarvalhoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-2090-298X
Mitchell A BekritskyIllumina, Inc., San Diego, CA, USA.ORCID 0000-0003-1420-1172
Ali CrawfordIllumina, Inc., San Diego, CA, USA.
Daniel CalameHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6860-372X
James HanIllumina, Inc., San Diego, CA, USA.ORCID 0009-0002-0333-7568
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6040-2691

Funding

Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
Mining Thousands of Genomes to Classify Somatic and Pathogenic Structural VariantsR01HG011774 · NHGRI · UNIVERSITY OF COLORADO · PI Ryan M Layer · 2022 to 2026
$2.9M
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUH3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Fritz J Sedlazeck, Tao Wu · 2025 to 2026
$994k
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUG3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SEDLAZECK, FRITZ J, WU, TAO · 2023 to 2024
$580k
NHGRI NIH HHS R01 HG011774NHGRI NIH HHS U01 HG011758NINDS NIH HHS UG3 NS132105NINDS NIH HHS UH3 NS132105
6 · The paper itself

Abstract

Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long reads remain costly and difficult to scale. Here, we present the first systematic evaluation of Illumina's Constellation sequencing technology for rare disease research. By fragmenting long DNA molecules directly on the flow cell surface, Constellation unlocks proximity information that enables long-range phasing and structural variant detection. Across 21 families, Constellation independently identified all known causative variants and resolved previously unsolved trios. It reliably resolved complex structural and copy number variants (e.g. impacting

Identifiers

PMID41282657
PMCPMC12633143

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.