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   Articles with "functional annotations" as a keyword



RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations

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recommendations! Published in 2024 at "Genetic Epidemiology"

DOI: 10.1002/gepi.70001

Abstract: A large proportion of genetic variations involved in complex diseases are rare and located within non-coding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progresses have been made… read more here.

Keywords: framework; retrofun rvs; rare variant; functional annotations ... See more keywords
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Identification of differentially expressed genes and functional annotations associated with metastases of the uveal melanoma

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recommendations! Published in 2019 at "Journal of Cellular Biochemistry"

DOI: 10.1002/jcb.29250

Abstract: Uveal melanoma (UVM) is an adult intraocular malignancy which is the most frequent and has a high tendency for metastasis. This study aims to develop significant differential gene subnetwork between primary and metastatic UVM to… read more here.

Keywords: functional annotations; metastatic uvm; uveal melanoma; primary metastatic ... See more keywords

KampoDB, database of predicted targets and functional annotations of natural medicines

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recommendations! Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-29516-1

Abstract: Natural medicines (i.e., herbal medicines, traditional formulas) are useful for treatment of multifactorial and chronic diseases. Here, we present KampoDB (http://wakanmoview.inm.u-toyama.ac.jp/kampo/), a novel platform for the analysis of natural medicines, which provides various useful scientific… read more here.

Keywords: constituent compounds; functional annotations; target proteins; natural medicines ... See more keywords

PALM: a powerful and adaptive latent model for prioritizing risk variants with functional annotations

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recommendations! Published in 2023 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btad068

Abstract: Abstract Motivation The findings from genome-wide association studies (GWASs) have greatly helped us to understand the genetic basis of human complex traits and diseases. Despite the tremendous progress, much effects are still needed to address… read more here.

Keywords: powerful adaptive; adaptive latent; functional annotations; model ... See more keywords

PDBe-KB: a community-driven resource for structural and functional annotations

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recommendations! Published in 2020 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkz853

Abstract: Abstract The Protein Data Bank in Europe-Knowledge Base (PDBe-KB, https://pdbe-kb.org) is a community-driven, collaborative resource for literature-derived, manually curated and computationally predicted structural and functional annotations of macromolecular structure data, contained in the Protein Data… read more here.

Keywords: community; pdbe; community driven; functional annotations ... See more keywords

A novel assembly pipeline and functional annotations for targeted sequencing: A case study on the globally threatened Margaritiferidae (Bivalvia: Unionida).

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recommendations! Published in 2023 at "Molecular ecology resources"

DOI: 10.1111/1755-0998.13802

Abstract: The proliferation of genomic sequencing approaches has significantly impacted the field of phylogenetics. Target capture approaches provide a cost-effective, fast and easily applied strategy for phylogenetic inference of non-model organisms. However, several existing target capture… read more here.

Keywords: new pipeline; target capture; functional annotations; novel assembly ... See more keywords
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Abstract P491: Functional Annotations for Improvements in Height and Blood Pressure Polygenic Risk Scores

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recommendations! Published in 2024 at "Circulation"

DOI: 10.1161/circ.149.suppl_1.p491

Abstract: Background: Genome-wide association studies (GWAS) have advanced our understanding of the polygenic basis of common, complex disorders. However, translating GWAS findings into clinical applications remains challenging. Polygenic risk scores (PRS) hold promise for clinical use… read more here.

Keywords: prs funct; polygenic risk; functional annotations; prs ... See more keywords

The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

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recommendations! Published in 2019 at "Genome Biology"

DOI: 10.1186/s13059-019-1835-8

Abstract: BackgroundThe Critical Assessment of Functional Annotation (CAFA) is an ongoing, global, community-driven effort to evaluate and improve the computational annotation of protein function.ResultsHere, we report on the results of the third CAFA challenge, CAFA3, that… read more here.

Keywords: functional annotations; protein function; new functional; cafa challenge ... See more keywords

Leveraging functional annotations in genetic risk prediction for human complex diseases

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recommendations! Published in 2017 at "PLoS Computational Biology"

DOI: 10.1371/journal.pcbi.1005589

Abstract: Genetic risk prediction is an important goal in human genetics research and precision medicine. Accurate prediction models will have great impacts on both disease prevention and early treatment strategies. Despite the identification of thousands of… read more here.

Keywords: annotations genetic; functional annotations; risk prediction; prediction ... See more keywords

Community Structure and Functional Annotations of the Skin Microbiome in Healthy and Diseased Catfish, Heteropneustes fossilis

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recommendations! Published in 2022 at "Frontiers in Microbiology"

DOI: 10.3389/fmicb.2022.856014

Abstract: The skin mucosa of fish serves as a primary barrier against pathogens. In lesion sites in diseased fish, the mucosal barrier is expected to be compromised, with a substantial presence of potential pathogens. An understanding… read more here.

Keywords: skin microbiome; diseased fish; heteropneustes fossilis; catfish heteropneustes ... See more keywords