Evidence map›Paper›PMID 36130085›Full record

ArticleGigaScience2022

d-StructMAn: Containerized structural annotation on the scale from genetic variants to whole proteomes.

Alexander Gress, Sanjay K Srikakulam, Sebastian Keller, Vasily Ramensky, Olga V Kalinina

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Article in GigaScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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5citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Alexander GressHelmholtz Institute for Pharmaceutical Research Saarland (HIPS)/Helmholtz Centre for Infection Research (HZI), Saarbrücken 8: 66123, Germany.ORCID 0000-0001-9554-805X
Sanjay K SrikakulamHelmholtz Institute for Pharmaceutical Research Saarland (HIPS)/Helmholtz Centre for Infection Research (HZI), Saarbrücken 8: 66123, Germany.ORCID 0000-0002-1752-5060
Sebastian KellerHelmholtz Institute for Pharmaceutical Research Saarland (HIPS)/Helmholtz Centre for Infection Research (HZI), Saarbrücken 8: 66123, Germany.ORCID 0000-0003-4182-5474
Vasily RamenskyNational Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of Russian Federation, Moscow, Russia.ORCID 0000-0001-7867-9509
Olga V KalininaHelmholtz Institute for Pharmaceutical Research Saarland (HIPS)/Helmholtz Centre for Infection Research (HZI), Saarbrücken 8: 66123, Germany.ORCID 0000-0002-9445-477X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundStructural annotation of genetic variants in the context of intermolecular interactions and protein stability can shed light onto mechanisms of disease-related phenotypes. Three-dimensional structures of related proteins in complexes with other proteins, nucleic acids, or ligands enrich such functional interpretation, since intermolecular interactions are well conserved in evolution.

resultsWe present d-StructMAn, a novel computational method that enables structural annotation of local genetic variants, such as single-nucleotide variants and in-frame indels, and implements it in a highly efficient and user-friendly tool provided as a Docker container. Using d-StructMAn, we annotated several very large sets of human genetic variants, including all variants from ClinVar and all amino acid positions in the human proteome. We were able to provide annotation for more than 46% of positions in the human proteome representing over 60% proteins.

conclusionsd-StructMAn is the first of its kind and a highly efficient tool for structural annotation of protein-coding genetic variation in the context of observed and potential intermolecular interactions. d-StructMAn is readily applicable to proteome-scale datasets and can be an instrumental building machine-learning tool for predicting genotype-to-phenotype relationships.

Indexed as

Nucleic AcidsProteomeAmino AcidsGenetic VariationHumansMolecular Sequence AnnotationNucleotidesAmino AcidsNucleic AcidsNucleotidesProteomeDocker containergenetic variationindelsprotein interactionsprotein structureSingle-nucleotide variantsstructural annotation

Identifiers

PMID36130085
PMCPMC9487898

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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.