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   Articles with "variant effect" as a keyword



Delta variant effect on the clinical course of adolescent COVID‐19 patients

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recommendations! Published in 2022 at "Pediatric Pulmonology"

DOI: 10.1002/ppul.26166

Abstract: The clinical course of new COVID‐19 variants in adolescents is still unknown. The aim of this study is to evaluate the clinical characteristics of COVID‐19 in adolescents and compare the differences between the original version… read more here.

Keywords: effect clinical; course adolescent; clinical course; delta variant ... See more keywords

Critical assessment of missense variant effect predictors on disease-relevant variant data

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recommendations! Published in 2025 at "Human Genetics"

DOI: 10.1007/s00439-025-02732-2

Abstract: Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility and guide future improvements. The Critical Assessment of… read more here.

Keywords: missense variant; missense; critical assessment; variant effect ... See more keywords

Recent Advances in Machine Learning Variant Effect Prediction Tools for Protein Engineering.

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recommendations! Published in 2022 at "Industrial & engineering chemistry research"

DOI: 10.1021/acs.iecr.1c04943

Abstract: Proteins are Nature's molecular machinery and comprise diverse roles while consisting of chemically similar building blocks. In recent years, protein engineering and design have become important research areas, with many applications in the pharmaceutical, energy,… read more here.

Keywords: function; effect prediction; protein engineering; engineering ... See more keywords

SSEmb: A joint embedding of protein sequence and structure enables robust variant effect predictions

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recommendations! Published in 2024 at "Nature Communications"

DOI: 10.1038/s41467-024-53982-z

Abstract: The ability to predict how amino acid changes affect proteins has a wide range of applications including in disease variant classification and protein engineering. Many existing methods focus on learning from patterns found in either… read more here.

Keywords: structure; sequence; variant effect; sequence structure ... See more keywords

Expanding the utility of variant effect predictions with phenotype-specific models.

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recommendations! Published in 2025 at "Nature communications"

DOI: 10.1038/s41467-025-66607-w

Abstract: Current methods for variant effect prediction do not differentiate between pathogenic variants resulting in different disease outcomes and are restricted in application due to a focus on variants with a single molecular consequence. We have… read more here.

Keywords: effect; ontology; disease phenotypes; variant effect ... See more keywords

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency

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recommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2210247119

Abstract: Significance Interpretation of missense variants in clinically important genes is a critical challenge. Loss-of-function (LOF) variants in SLC22A5 (OCTN2) cause Carnitine Transporter Deficiency (CTD), a rare but potentially lethal inborn error of metabolism. Motivated by… read more here.

Keywords: specific variant; protein specific; carnitine transporter; transporter deficiency ... See more keywords

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation

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recommendations! Published in 2022 at "Blood Advances"

DOI: 10.1182/bloodadvances.2021006416

Abstract: Key Points • In CM-TMA, variants in specific genes/regions are associated with high risk of relapse after eculizumab is discontinued.• In CM-TMA, eculizumab discontinuation is appropriate in patients with a low risk of relapse. read more here.

Keywords: effect relapse; complement; relapse; complement gene ... See more keywords

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

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recommendations! Published in 2025 at "PLOS Computational Biology"

DOI: 10.1371/journal.pcbi.1013400

Abstract: Intrinsically disordered protein regions (IDPRs) are central to diverse cellular processes but present unique challenges for interpreting genetic variants implicated in human disease. Unlike structured protein domains, IDPRs lack stable three-dimensional conformations and are often… read more here.

Keywords: intrinsically disordered; biology; pathogenic variants; variant effect ... See more keywords