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Amy Francis

dblp:425/3309 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2024
—ORCID · unresolved

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology
genomics
0.812024
DrivR-Base: a feature extraction toolkit for variant effect prediction model construction · Bioinform. 2024
Bioinformatics and computational biology › statistical genetics
variant effect prediction
0.812024
DrivR-Base: a feature extraction toolkit for variant effect prediction model construction · Bioinform. 2024
Bioinformatics and computational biology › genomics › variant annotation
single-nucleotide variant annotation
0.212024
DrivR-Base: a feature extraction toolkit for variant effect prediction model construction · Bioinform. 2024

Methods — techniques the papers use, named apart from their topics

variant effect predictor · 0.8feature engineering · 0.8alphafold · 0.8
YearPublicationVenuePosition
2024 DrivR-Base: a feature extraction toolkit for variant effect prediction model construction
abstract
MOTIVATION: Recent advancements in sequencing technologies have led to the discovery of numerous variants in the human genome. However, understanding their precise roles in diseases remains challenging due to their complex functional mechanisms. Various methodologies have emerged to predict the pathogenic significance of these genetic variants. Typically, these methods employ an integrative approach, leveraging diverse data sources that provide important insights into genomic function. Despite the abundance of publicly available data sources and databases, the process of navigating, extracting, and pre-processing features for machine learning models can be highly challenging and time-consuming. Furthermore, researchers often invest substantial effort in feature extraction, only to later discover that these features lack informativeness. RESULTS: In this article, we introduce DrivR-Base, an innovative resource that efficiently extracts and integrates molecular information (features) related to single nucleotide variants. These features encompass information about the genomic positions and the associated protein positions of a variant. They are derived from a wide array of databases and tools, including structural properties obtained from AlphaFold, regulatory information sourced from ENCODE, and predicted variant consequences from Variant Effect Predictor. DrivR-Base is easily deployable via a Docker container to ensure reproducibility and ease of access across diverse computational environments. The resulting features can be used as input for machine learning models designed to predict the pathogenic impact of human genome variants in disease. Moreover, these feature sets have applications beyond this, including haploinsufficiency prediction and the development of drug repurposing tools. We describe the resource's development, practical applications, and potential for future expansion and enhancement. AVAILABILITY AND IMPLEMENTATION: DrivR-Base source code is available at https://github.com/amyfrancis97/DrivR-Base.
Amy Francis, Colin Campbell, Tom R. Gaunt
Bioinform.1