Evidence map›Paper›PMID 35373174›Full record

ArticleCell genomics2022

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.

James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa, Amanda B Spurdle, Melissa Cline

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 26% of its field
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Review
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

7 authors at 3 institutions in 3 countries.

James CasalettoUC Santa Cruz Genomics Institute, Mail Stop: Genomics, University of California, 1156 High Street, Santa Cruz, CA 95064, USA.
Michael ParsonsQIMR Berghofer Medical Research Institute, 300 Herston Rd., Herston, QLD 4006, Australia.
Charles MarkelloUC Santa Cruz Genomics Institute, Mail Stop: Genomics, University of California, 1156 High Street, Santa Cruz, CA 95064, USA.
Yusuke IwasakiLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama City, Kanagawa 230-0045, Japan.
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama City, Kanagawa 230-0045, Japan.
Amanda B SpurdleQIMR Berghofer Medical Research Institute, 300 Herston Rd., Herston, QLD 4006, Australia.
Melissa ClineUC Santa Cruz Genomics Institute, Mail Stop: Genomics, University of California, 1156 High Street, Santa Cruz, CA 95064, USA.
University of California, Santa Cruz · USQIMR Berghofer Medical Research Institute · AURIKEN Center for Integrative Medical Sciences · JP

Funding

NHLBI Data Stage Coordinating CenterOT3HL147154 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Ashok Kumar Krishnamurthy · 2018 to 2026
$98.9M
Training SubprojectU54HG007990 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H, PATTERSON, DAVID · 2014 to 2018
$14.8M
Unbiased analysis of genomic correlates of gene expression in health and diseaseU01HL137183 · NHLBI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI HAUSSLER, DAVID H · 2017 to 2019
$1.8M
Federated Analysis in Cancer Genomics: Surveying the Social, Ethical, and Regulatory LandscapeU01CA242954 · NCI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI CLINE, MELISSA SUZANNE · 2019 to 2021
$1.5M
Medical Research Council MC_PC_19024NCI NIH HHS U01 CA242954NHGRI NIH HHS U54 HG007990NHLBI NIH HHS OT3 HL147154NHLBI NIH HHS U01 HL137183
6 · The paper itself

Abstract

More than 40% of the germline variants in ClinVar today are variants of uncertain significance (VUSs). These variants remain unclassified in part because the patient-level data needed for their interpretation is siloed. Federated analysis can overcome this problem by "bringing the code to the data": analyzing the sensitive patient-level data computationally within its secure home institution and providing researchers with valuable insights from data that would not otherwise be accessible. We tested this principle with a federated analysis of breast cancer clinical data at RIKEN, derived from the BioBank Japan repository. We were able to analyze these data within RIKEN's secure computational framework without the need to transfer the data, gathering evidence for the interpretation of several variants. This exercise represents an approach to help realize the core charter of the Global Alliance for Genomics and Health (GA4GH): to responsibly share genomic data for the benefit of human health.

Identifiers

PMID35373174
PMCPMC8975122
OpenAlexW4221054040

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.