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Azza Althagafi
Azza Althagafi
Ph.D. in Computer Science - Bioinformatics, KAUST, Assistant Professor at Taif University (TU)
Verified email at kaust.edu.sa - Homepage
Title
Cited by
Cited by
Year
Predicting candidate genes from phenotypes, functions and anatomical site of expression
J Chen, A Althagafi, R Hoehndorf
Bioinformatics 37 (6), 853-860, 2021
482021
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
M Umair, M Ballow, A Asiri, Y Alyafee, A Al Tuwaijri, KM Alhamoudi, ...
Clinical Genetics 98 (6), 555-561, 2020
302020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
A Alfares, L Alsubaie, T Aloraini, A Alaskar, A Althagafi, A Alahmad, ...
BMC medical genomics 13, 1-8, 2020
152020
DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning
A Althagafi, L Alsubaie, N Kathiresan, K Mineta, T Aloraini, F Al Mutairi, ...
Bioinformatics 38 (6), 1677-1684, 2022
122022
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
SL Stenton, MC O’Leary, G Lemire, GE VanNoy, S DiTroia, VS Ganesh, ...
Human Genomics 18 (1), 44, 2024
32024
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes
Ș Kafkas, M Abdelhakim, M Uludag, A Althagafi, M Alghamdi, ...
BMC bioinformatics 24 (1), 294, 2023
22023
Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning
A Althagafi, F Zhapa-Camacho, R Hoehndorf
Bioinformatics 40 (5), btae301, 2024
12024
VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing
A Althagafi, R Hoehndorf
bioRxiv, 529461, 2019
12019
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
Ş Kafkas, M Abdelhakim, A Althagafi, S Toonsi, M Alghamdi, PN Schofield, ...
medRxiv, 2023.11. 16.23298615, 2023
2023
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)
MC Aspromonte, A Del Conte, S Zhu, W Tan, Y Shen, Y Zhang, Q Li, ...
Research Square, 2023
2023
Prioritizing Causative Genomic Variants by Integrating Molecular and Functional Annotations from Multiple Biomedical Ontologies
AT Althagafi
2023
A personal, reference quality, fully annotated genome from a Saudi individual
M Kulmanov, R Tawfiq, H Al Ali, M Abdelhakim, M Alarawi, H Aldakhil, ...
bioRxiv, 2022.11. 05.515129, 2022
2022
bio-ontology-research-group/KSA001: Telomere-2-Telomere Genome from Saudi Arabia
M Kulmanov, R Tawfiq, H Al Ali, M Abdelhakim, M Alarawi, H Aldakhil, ...
Github, 2022
2022
bio-ontology-research-group/STARVar: STARVar: Symptom based Tool for Automatic Ranking of Variants using evidence from literature and genomes
S Kafkas, M Abdelhakim, M Uludag, AT Althagafi, M Alghamdi, ...
Github, 2022
2022
Visualization and simulation of genomes
AT Althagafi, R Hoehndorf
US Patent App. 17/273,619, 2021
2021
bio-ontology-research-group/DeepSVP: Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity
AT Althagafi, L Alsubaie, N Kathiresan, K Mineta, T Aloraini, F Almutairi, ...
Github, 2020
2020
Prioritizing Copy Number Variants using Phenotype and Gene Functional Similarity
AT Althagafi, J Chen, N Kathiresan, R Hoehndorf
2020
bio-ontology-research-group/VSIM: Visualization and simulation of variants in personal genomes with an application to premarital testing
AT Althagafi, R Hoehndorf
Github, 2019
2019
Visualization and Simulation of Variants in Personal Genomes With an Application to Premarital Testing (VSIM)
AT Althagafi
2018
CAGI 6
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Articles 1–20