Evidence map›Paper›PMID 37873263›Full record

ArticlebioRxiv : the preprint server for biology2024

Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).

Kaiyue Ma, Shushu Huang, Kenneth K Ng, Nicole J Lake, Soumya Joseph, Jenny Xu, Angela Lek, Lin Ge, Keryn G Woodman, Katherine E Koczwara and 6 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, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 5 institutions in 2 countries.

Kaiyue MaDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0009-0001-4302-3371
Shushu HuangDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-0220-4395
Kenneth K NgDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-4218-8841
Nicole J LakeDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-4103-6387
Soumya JosephHoward Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics and Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.ORCID 0000-0002-0487-1378
Jenny XuYale University, New Haven, CT, USA.ORCID 0009-0000-3180-3672
Angela LekDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-5889-2169
Lin GeDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-6547-3242
Keryn G WoodmanDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-4969-3026
Katherine E KoczwaraDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0009-0002-2835-4620
Justin CohenDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-3844-0653
Vincent HoDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0009-0000-7488-6631
Christine L O'ConnorDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0009-0009-3516-4260
Melinda A BrindleyDepartment of Infectious Diseases, Department of Population Health, University of Georgia, Athens, GA, USA.ORCID 0000-0002-4929-8085
Kevin P CampbellHoward Hughes Medical Institute, Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Molecular Physiology and Biophysics and Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.ORCID 0000-0003-2066-5889
Monkol LekDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-1227-6293
Yale University · USHoward Hughes Medical Institute · USMuscular Dystrophy Association · USCapital Medical University · CNUniversity of Georgia · US

Funding

Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI MEGAN C KING · 1985 to 2026
$85.0M
Therapeutic Potential of ESC-Derived Myogenic PrecursorsU54NS053672 · NINDS · UNIVERSITY OF IOWA · PI CAMPBELL, KEVIN P. · 2005 to 2019
$22.0M
Defining the role of phosphatidylserine in hemorrhagic fever virus replicationR01AI139238 · NIAID · UNIVERSITY OF GEORGIA · PI BRINDLEY, MELINDA ANN · 2019 to 2023
$2.0M
Exploring the role of hypoxia signaling and its inhibition as a therapy for Facioscapulohumeral muscular dystrophyF32AR079892 · NIAMS · YALE UNIVERSITY · PI COHEN, JUSTIN · 2022 to 2023
$144k
NCI NIH HHS P30 CA016359NIAID NIH HHS R01 AI139238NIAMS NIH HHS F32 AR079892NINDS NIH HHS U54 NS053672
6 · The paper itself

Abstract

Interpretation of disease-causing genetic variants remains a challenge in human genetics. Current costs and complexity of deep mutational scanning methods hamper crowd-sourcing approaches toward genome-wide resolution of variants in disease-related genes. Our framework, Saturation Mutagenesis-Reinforced Functional assays (SMuRF), addresses these issues by offering simple and cost-effective saturation mutagenesis, as well as streamlining functional assays to enhance the interpretation of unresolved variants. Applying SMuRF to neuromuscular disease genes

Indexed as

cost-effective variant interpretationDeep mutational scanningdiagnosticsdystroglycanopathiesgenetic diseaseshigh-throughput functional assaysmuscular dystrophiessaturation mutagenesisvariant effect predictionvariants of uncertain significance

Identifiers

PMID37873263
PMCPMC10592615
OpenAlexW4384559361

What OpenQuestion holds

Textmetadata
LicenceCC BY-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.