Evidence map›Paper›PMID 39596086›Full record

ArticleInternational journal of molecular sciences2024

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.

Nikita R Dsouza, Neshatul Haque, Swarnendu Tripathi, Michael T Zimmermann

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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.

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

4 authors.

Nikita R DsouzaComputational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Neshatul HaqueComputational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Swarnendu TripathiComputational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Michael T ZimmermannComputational Structural Genomics Unit, Linda T. and John A. Mellowes Center for Genomics Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI 53226, USA.ORCID 0000-0001-7073-0525

Funding

Advancing Genomic Interpretation for Chromatin Remodeling EnzymesR35GM153740 · NIGMS · MEDICAL COLLEGE OF WISCONSIN · PI Michael T Zimmermann · 2024 to 2026
$1.2M
National Institute Of General Medical Sciences of the National Institutes of Health R35GM153740NIGMS NIH HHS R35 GM153740
6 · The paper itself

Abstract

Clinical genomics sequencing is rapidly expanding the number of variants that need to be functionally elucidated. Interpreting genetic variants (i.e., mutations) usually begins by identifying how they affect protein-coding sequences. Still, the three-dimensional (3D) protein molecule is rarely considered for large-scale variant analysis, nor in analyses of how proteins interact with each other and their environment. We propose a standardized approach to scoring protein surface property changes as a new dimension for functionally and mechanistically interpreting genomic variants. Further, it directs hypothesis generation for functional genomics research to learn more about the encoded protein's function. We developed a novel method leveraging 3D structures and time-dependent simulations to score and statistically evaluate protein surface property changes. We evaluated positive controls composed of eight thermophilic versus mesophilic orthologs and variants that experimentally change the protein's solubility, which all showed large and statistically significant differences in charge distribution (

Indexed as

GenomicsGenetic VariationHumansModels, MolecularMutationProtein ConformationProteinsSurface PropertiesProteinsgenomic data interpretationmolecular geneticsprotein scienceprotein surface

Identifiers

PMID39596086
PMCPMC11594063

What OpenQuestion holds

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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.