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Lea L. Ackovic

dblp:322/6899 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2022
—ORCID · none

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

Applied, interdisciplinary, general and emerging computing · 1 · 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 · 50% Computational science and engineering · 50%

Topics — the 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › statistical genetics › rare variant analysis
rare variant association testing
0.612022
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis · Bioinform. 2022
Computational science and engineering › computational reproducibility
reproducible workflow
0.612022
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis · Bioinform. 2022

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

WDL · 0.6STAAR · 0.6
YearPublicationVenuePosition
2022 STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis
abstract
SUMMARY: We developed the variant-Set Test for Association using Annotation infoRmation (STAAR) workflow description language (WDL) workflow to facilitate the analysis of rare variants in whole genome sequencing association studies. The open-access STAAR workflow written in the WDL allows a user to perform rare variant testing for both gene-centric and genetic region approaches, enabling genome-wide, candidate and conditional analyses. It incorporates functional annotations into the workflow as introduced in the STAAR method in order to boost the rare variant analysis power. This tool was specifically developed and optimized to be implemented on cloud-based platforms such as BioData Catalyst Powered by Terra. It provides easy-to-use functionality for rare variant analysis that can be incorporated into an exhaustive whole genome sequencing analysis pipeline. AVAILABILITY AND IMPLEMENTATION: The workflow is freely available from https://dockstore.org/workflows/github.com/sheilagaynor/STAAR_workflow. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Sheila M. Gaynor, Kenneth E. Westerman, Lea L. Ackovic, Xihao Li, Zilin Li, Alisa Manning, Anthony A. Philippakis, Xihong Lin
Bioinform.3