Nicole Vasilevsky
Overview
Explore the profile of Nicole Vasilevsky including associated specialties, affiliations and a list of published articles.
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Articles
33
Citations
1393
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Recent Articles
1.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
Genetics
. 2025 Mar;
PMID: 40048704
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
2.
Braun I, Hartley E, Olson D, Matentzoglu N, Schaper K, Walls R, et al.
JAMIA Open
. 2025 Feb;
8(1):ooaf001.
PMID: 39926165
Objectives: Demonstrate a methodology for improving discoverability of rare disease datasets by enriching source data with biological associations. Materials And Methods: We developed an extension of the Biolink semantic model...
3.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, et al.
medRxiv
. 2024 Nov;
PMID: 39606380
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to...
4.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
bioRxiv
. 2024 Sep;
PMID: 39345458
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
5.
Stefancsik R, Balhoff J, Balk M, Ball R, Bello S, Caron A, et al.
Mamm Genome
. 2023 Apr;
34(3):364-378.
PMID: 37076585
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic...
6.
Chan L, Thessen A, Duncan W, Matentzoglu N, Schmitt C, Grondin C, et al.
J Biomed Semantics
. 2023 Feb;
14(1):3.
PMID: 36823605
Background: Evaluating the impact of environmental exposures on organism health is a key goal of modern biomedicine and is critically important in an age of greater pollution and chemicals in...
7.
Stefancsik R, Balhoff J, Balk M, Ball R, Bello S, Caron A, et al.
bioRxiv
. 2023 Feb;
PMID: 36747660
Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic...
8.
Harris N, Hokamp K, Menager H, Munoz-Torres M, Unni D, Vasilevsky N, et al.
F1000Res
. 2022 Sep;
11:1034.
PMID: 36128559
The 23 annual Bioinformatics Open Source Conference (BOSC 2022) was part of this year's conference on Intelligent Systems for Molecular Biology (ISMB). Launched in 2000 and held every year since,...
9.
Matentzoglu N, Balhoff J, Bello S, Bizon C, Brush M, Callahan T, et al.
Database (Oxford)
. 2022 May;
2022.
PMID: 35616100
Despite progress in the development of standards for describing and exchanging scientific information, the lack of easy-to-use standards for mapping between different representations of the same or similar objects in...
10.
Deer R, Rock M, Vasilevsky N, Carmody L, Rando H, Anzalone A, et al.
EBioMedicine
. 2021 Nov;
74:103722.
PMID: 34839263
Background: Numerous publications describe the clinical manifestations of post-acute sequelae of SARS-CoV-2 (PASC or "long COVID"), but they are difficult to integrate because of heterogeneous methods and the lack of...