Author

Bin Alwi Zilfalil

Universiti Sains MalaysiaORCID 0000-0001-5055-7892Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Celeste BentoiD· 3 shared Coralea StephanouiD· 3 shared Marina KleanthousiD· 3 shared Petros KountourisiD· 3 shared Carsten Werner LedereriD· 2 shared Cornelis L. HarteveldiD· 2 shared Hashim Halim‐FikriiD· 2 shared Irene FylaktouiD· 2 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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3 shared papersBioinformatics

Celeste BentoORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 1, 2026

ClinGen Hemoglobinopathy VCEP ACMG/AMP specifications for HBB and HBA2 variant interpretation in thalassemia

Coralea Stephanou, Irene Fylaktou, Hashim Halim‐Fikri…·ClinGen Hemoglobinopathy Variant Curation Expert Panel

The paper develops and validates disease-specific ACMG/AMP variant interpretation specifications for HBB and HBA2 in thalassemia, providing a standardized framework for globin gene variant classification.

DOI 10.64898/2026.10.30.26366794

humanwhole-exome sequencing

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BioinformaticseLifePeer-reviewedDec 1, 2022

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

Stella Tamana, Maria Xenophontos, Anna Minaidou…·Petros Kountouris

This study evaluates 31 in silico predictors for variants in HBA1, HBA2, and HBB, finding CADD, Eigen-PC, and REVEL as top performers for pathogenicity prediction.

15 citations

humanGWAS summary statistics

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BioinformaticsbioRxivPreprintOct 31, 2017

ITHANET: Information and database community portal for haemoglobinopathies

Petros Kountouris, Coralea Stephanou, Celeste Bento…·Marina Kleanthous

ITHANET is a community portal that integrates information and databases on haemoglobinopathies, providing annotated variations, epidemiological data, and diagnostic reports.

13 citations

humandatabase / resource

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