Publications by authors named "Azza Althagafi"

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VarLand: A pipeline to map the structural landscape of missense variants at the proteome scale.
Francisco J Guzmán-Vega, Kelly J Cardona-Londoño, Ana C González-Álvarez, Karla A Peña-Guerra, Azza Althagafi

J Biol Chem· December 2025

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Deep Learning-Based Mpox Skin Lesion Detection and Real-Time Monitoring in a Smart Healthcare System.
Huda Alghoraibi, Nuha Alqurashi, Sarah Alotaibi, Renad Alkhudaydi, Bdoor Aldajani, Azza Althagafi

Diagnostics (Basel)· October 2025

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The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.
Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Alghamdi

Sci Rep· April 2025

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CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).
Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Azza Althagafi

Hum Genet· March 2025

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A reference quality, fully annotated diploid genome from a Saudi individual.
Maxat Kulmanov, Rund Tawfiq, Yang Liu, Hatoon Al Ali, Marwa Abdelhakim, Azza Althagafi, Malak S Abedalthagafi

Sci Data· November 2024

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Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning.
Azza Althagafi, Fernando Zhapa-Camacho, Robert Hoehndorf

Bioinformatics· May 2024

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Sarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Azza Althagafi

Hum Genomics· April 2024

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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Azza Althagafi

Res Sq· August 2023

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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Azza Althagafi

medRxiv· August 2023

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Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.
Șenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, Azza Althagafi, Malak Alghamdi

BMC Bioinformatics· July 2023

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DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.
Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini

Bioinformatics· March 2022

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Predicting candidate genes from phenotypes, functions and anatomical site of expression.
Jun Chen, Azza Althagafi, Robert Hoehndorf

Bioinformatics· May 2021

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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Muhammad Umair, Mariam Ballow, Abdulaziz Asiri, Yusra Alyafee, Abeer Al Tuwaijri, Azza Thamer Althagafi

Clin Genet· December 2020

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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi

BMC Med Genomics· July 2020

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