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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124Source: DataRank Database

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease is a research paper published in Genome Research (2025). On theSindex it has a DataRank of 0.425. It has been cited 11 times, with 8 citing works in its 1-hop citation network.

N/A

0.425DataRank · unranked

Scored on demand from live citation data

Deposits data Open Access11 citations · 8 citing works in its network

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Data availability

Repositories this paper deposited data in (declared in PubMed).

dbGaPphs001232 phs000424

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (40 grants)OA: bronzeTopics (13)IDs (PubMed)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 88%Citation Network 12%

Base Score Contribution

0.373

From this paper's citation signal

Citation Network Contribution

0.0522

From 2 citing papers with measurable signal

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Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 8 citers.

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
The American Journal of Human Genetics202542 citations93 referencesContributes 0.040
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders
Genes20251 citations33 referencesContributes 0.021
Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases
Genome Research20250 citations39 referencesContributes 0.000
Manual validation finds only ultra-long long-read sequencing enables faithful, population-level structural variant calling in Drosophila melanogaster euchromatin
bioRxiv (Cold Spring Harbor Laboratory)20250 citations84 referencesContributes 0.000
Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortium
medRxiv20260 citations97 referencesContributes 0.000

Authors (18)

Bohan Ni ORCID,Chloe Reuter ORCID,John E. Gorzynski ORCID,Sarah Fazal ORCID,Devon Bonner ORCID

Live enrichment

PubMed:40113264

Undiagnosed Diseases Network

Grant: U01HG010218

Undiagnosed Diseases Network

Grant: U01HG011762

Undiagnosed Diseases Network

Grant: T32HG000044

Grant: R35GM139580

Grant: U24HG010263

Grant: OT2OD034190

Grant: U01CA253481

Grant: R03CA272952

Grant: U01HG012069

Grant: 1R21HG013397

Grant: 5R01NS072248

Grant: U01NS134358

Grant: R35AG072290

Grant: P30AG066515

Grant: R01AG074339

Grant: R01AG048076

Grant: U01AG072573

Grant: R01AG066490

Grant: R01MH125244

NIH

Grant: S10OD025082

National Institutes of Health

Grant: 5R35AG072290-03

Illuminating the APOE Locus with Long-Read Sequencing and Targeted Genomics

National Institutes of Health

Grant: 3U01HG010218-04S2

Center for Undiagnosed Diseases at Stanford Administrative Supplement

National Institutes of Health

Grant: 5R01AG074339-02

Hippocampal-dependent memory decline in aging and early Alzheimer's disease

National Institutes of Health

Grant: 5U01CA253481-03

Integrative genomic and epigenomic analysis of cancer using long read sequencing

National Institutes of Health

Grant: 3OT2OD034190-01S1

NIH Cloud Platform Interoperability Administrative Coordinating Center

National Institutes of Health

Grant: 5U24HG010263-08

Expanding the AnVIL (Analysis, Visualization, and Informatics Lab-space)

National Institutes of Health

Grant: 1R01AG066490-01

Mapping Molecular and Phenotypic Interactions in Alzheimers Disease

National Institutes of Health

Grant: 1S10OD025082-01

Object Storage for Secure Data Sharing

National Institutes of Health

Grant: 5R01AG048076-02

High-resolution imaging of hippocampal mechanisms in age-related memory decline.

National Institutes of Health

Grant: 5R01MH125244-03

Identifying causal genetic variants and molecular mechanisms impacting mental health

National Institutes of Health

Grant: 1R21HG013397-01

Creating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbench

National Institutes of Health

Grant: 5R01NS072248-12

Genome Studies in Hereditary Spastic Paraplegia- Beyond the Exome

National Institutes of Health

Grant: 9U01NS134358-05

Center for Undiagnosed Diseases at Stanford

National Institutes of Health

Grant: 5R35GM139580-05

Modeling the dynamicimpact of rare and common genetic variation on gene expression anddisease

National Institutes of Health

Grant: 5U01HG011762-03

Stanford Mendelian Genomics Research Center

National Institutes of Health

Grant: 5U01HG012069-05

Predicting context-specific molecular and phenotypic effects of genetic variation through the lens of the cis-regulatory code

National Institutes of Health

Grant: 1R03CA272952-01

Optimized workflows for structural variant analysis of the Kids First genomes using short and long reads

National Institutes of Health

Grant: 5T32HG000044-14

Institutional Training Grant in Genome Science

National Institutes of Health

Grant: 1U01AG072573-01

Multi-omic functional assessment of novel AD variants using high-throughput and single-cell technologies

National Institutes of Health

Grant: 5P30AG066515-03

Stanford Alzheimer's Disease Research Center

bronzeLicense: CC BY NC ND

publisherhttp://genome.cshlp.org/content/early/2025/03/19/gr.279323.124.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/gr.279323.124

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/12047269

https://doi.org/10.1101/2024.03.22.24304565

https://doi.org/10.1101/gr.279323.124

Fields of Study

MedicineBiology0303 health sciences03 medical and health sciences

Keywords

Rare DiseasesGenome, HumanGene Expression ProfilingGenomic Structural VariationMethodHumansGenomicsTranscriptomeArticle

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