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Mary B Makarious, PhD

Data Tecnica International (United States), National Institutes of Health

Washington D.C., USA

Working Groups

Biography

Mary is an Egyptian-American biomedical data scientist committed to open science principles and enhancing diversity in genomic studies.

With her background in machine learning, data science, and genetics, she analyzes large-scale multi-omics datasets to develop open, reproducible pipelines and user-friendly notebooks and tools.

Her efforts aim to empower others to effectively explore and interpret their own data and to foster a more inclusive and collaborative scientific community.

Contact

[email protected]

Outputs and publications by Mary B Makarious, PhD

CNV-Finder: Streamlining Copy Number Variation Discovery
In this study, we present CNV-Finder, a novel pipeline integrating deep learning techniques on array data, specifically a Long Short-Term Memory (LSTM) network, to expedite the large-scale identification of CNVs within predefined genomic regions.
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Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease
Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease
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Multi-ancestry population attributable risk assessment of common genetic variation in Alzheimer's and Parkinson's diseases
Multiple scientific studies, mostly performed within European populations, have unraveled many of the genetic factors associated with Alzheimer's disease (AD) and Parkinson's disease (PD) etiologies, improving our understanding of the molecular pathways implicated in the pathogenesis of these conditions.
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