Evidence map›Paper›PMID 38405764›Full record

ArticlebioRxiv : the preprint server for biology2024

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.

Shilpa Nadimpalli Kobren, Mikhail A Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I Corona, George de V Carvalho Neto, Julian Willett and 9 more

Open access · greenAbstract 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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors at 7 institutions in 2 countries.

Shilpa Nadimpalli KobrenDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.ORCID 0000-0003-1264-6098
Mikhail A MoldovanDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.ORCID 0000-0002-8876-6494
Rebecca ReimersScripps Research Translational Institute, La Jolla, CA.ORCID 0000-0001-8922-0015
Daniel TravigliaDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.
Xinyun LiProgram in Computational Biology and Bioinformatics, Yale University, New Haven, CT.ORCID 0009-0008-9690-1415
Danielle BarnumAccess to Medicine Foundation, Amsterdam, The Netherlands.
Alexander VeitDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.
Rosario I CoronaDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA.
George de V Carvalho NetoDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA.ORCID 0000-0003-4434-692X
Julian WillettDepartment of Pathology and Laboratory Medicine, NewYork-Presbyterian Weill Cornell Medical Center, New York, NY.
Michele BerselliDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.
William RonchettiDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.
Stanley F NelsonDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA.ORCID 0000-0002-2082-3114
Julian A Martinez-AgostoDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA.ORCID 0000-0001-6776-6949
Richard SherwoodDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Joel KrierDepartment of Genetics, Atrius Health, Boston, MA.
Isaac S KohaneDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.ORCID 0000-0003-2192-5160
Undiagnosed Diseases Network
Shamil R SunyaevDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA.ORCID 0000-0001-5715-5677
Harvard University · USUniversity of California, Los Angeles · USAccess to Nutrition Foundation · NLBrigham and Women's Hospital · USCornell University · USScripps Research Institute · USYale University · US

Funding

Diagnosing the Unknown for Care and Advancing Science (DUCAS)U2CNS132415 · NINDS · HARVARD MEDICAL SCHOOL · PI Francis Sessions Cole · 2023 to 2026
$32.1M
Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Statistical methods for studies of rare variantsR01MH101244 · NIMH · HARVARD MEDICAL SCHOOL · PI Benjamin Michael Neale, ALKES L PRICE · 2013 to 2026
$9.4M
The origin, the function and the phenotypic impact of human allelesR35GM127131 · NIGMS · HARVARD MEDICAL SCHOOL · PI SHAMIL SUNYAEV · 2018 to 2026
$8.1M
Institutional Career Development CoreKL2TR002552 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI NICHOLSON, LAURA · 2018 to 2022
$5.2M
Enhancing clinical diagnostic analysis with a robust de novo mutation detection toolR01HG012286 · NHGRI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Gabor T Marth, MARTIN TRISTANI-FIROUZI · 2022 to 2026
$4.7M
Predicting the impact of genetic variants, genes and pathways on human DiseaseU01HG012009 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ALKES L PRICE, Soumya Raychaudhuri · 2021 to 2026
$4.2M
High-throughput investigation of human genetic variants affecting cholesterol uptake and effluxR01HL164409 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SHERWOOD, RICHARD I · 2022 to 2025
$3.1M
UCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936k
Urgent Supplement: Correcting genetic disorders using predictable CRISPR/Cas9-induced exon skippingR21HG010391 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASSA, CHRISTOPHER, SHERWOOD, RICHARD I · 2019 to 2020
$632k
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
NCATS NIH HHS KL2 TR002552NHGRI NIH HHS F32 HG000130NHGRI NIH HHS R01 HG012286NHGRI NIH HHS R21 HG010391NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG012009NHLBI NIH HHS R01 HL164409NIGMS NIH HHS R35 GM127131NIGMS NIH HHS T32 GM007748NIMH NIH HHS R01 MH101244NINDS NIH HHS U01 NS134356NINDS NIH HHS U2C NS132415
6 · The paper itself

Abstract

Genomics for rare disease diagnosis has advanced at a rapid pace due to our ability to perform "N-of-1" analyses on individual patients with ultra-rare diseases. The increasing sizes of ultra-rare disease cohorts internationally newly enables cohort-wide analyses for new discoveries, but well-calibrated statistical genetics approaches for jointly analyzing these patients are still under development.

Identifiers

PMID38405764
PMCPMC10888768
OpenAlexW4391898826

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.