Author

Said I. Ismail

Qatar FoundationORCID 0000-0002-8425-4010Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 6 Assay:GWAS summary statistics· 3 Assay:whole-genome sequencing· 3 Research Focus:benchmarking· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Research Focus:GWAS / association mapping· 2

Frequent Co-Authors

Chadi SaadiD· 6 shared Hamdi MbarekiD· 4 shared Wadha Al‐MuftahiD· 4 shared Archie I CampbelliD· 3 shared Asma A. Al Thani· 3 shared Asmaa A. Al ThaniiD· 3 shared Iona Y. MillwoodiD· 3 shared Kuang LiniD· 3 shared

Activity by Year

2021-2023 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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Curved chords = mutual co-authorship

6 shared papersGenetic & Genomic Medicine

Chadi SaadORCID

Mutual co-authors in cluster

Author profile →

6 papers

Recent·Most cited

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

Nick R. G. Shrine, Abril G. Izquierdo, Jing Chen, Richard J. Packer, Robert J. Hall, Anna L. Guyatt, Chiara Batini, Rebecca J. Thompson, Chandan K Pavuluri, Vidhi Malik, Brian D. Hobbs, Matthew R. Moll, Wonji Kim, Ruth Tal‐Singer, Per Sigvald Bakke, , Data Management and Computing Infrastructure group

This study performs a multi-ancestry GWAS on lung function and COPD, identifying 559 genes and 29 pathways, and showing genetic risk scores are associated with COPD across ancestries.

Nature Genetics · Mar 1, 2023Peer-reviewedGenetic & Genomic Medicine

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

Masahiro Kanai, Roy Elzur, Wei Zhou, Kuan-Han Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida L. Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, , Tom R. Gaunt

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Cell Genomics · Nov 4, 2022Peer-reviewedGenetic & Genomic Medicine

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Wei Zhou, Masahiro Kanai, Kuan-Han Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida L. Surakka, Brooke N. Wolford, Valeria Lo Faro, Esteban A. Lopera-Maya, Kristi Läll, , Jennifer E. Huffman

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Cell Genomics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest

Qatar Genome: Insights on Genomics from the Middle East

Hamdi Mbarek, Geethanjali Devadoss Gandhi, Senthil Selvaraj, Wadha Al‐Muftah, Radja Messai Badji, Yasser A. Al-Sarraj, Chadi Saad, Dima Darwish, Muhammad Arshad Alvi, Tasnim Fadl, Heba Yasin, Fatima Alkuwari, Rozaimi Razali, Waleed Aamer, Fatemeh Abbaszadeh, , Asma Al-Thani

The Qatar Genome Program sequenced 6,045 individuals, identifying 88 million variants, including novel ones, and revealed genetic structure and disease-related markers in the Qatari population.

Human Mutation · Feb 2, 2022Peer-reviewedGenetic & Genomic Medicine

Poking COVID-19: insights on genomic constraints among immune-related genes between Qatari and Italian populations

Hamdi Mbarek, Massimiliano Cocca, Yasser A. Al-Sarraj, Chadi Saad, Massimo Mezzavilla, Wadha Al‐Muftah, Dario Cocciadiferro, Antonio Novelli, Isabella Quinti, Azza Al-Tawashi, Salvino A. Salvaggio, Asma Al-Thani, Giuseppe Novelli, Said I. Ismail

This study compares genomic variations in immune-related genes between Qatari and Italian populations to identify differences in selective pressures.

Genes · Nov 22, 2021Peer-reviewedGenetic & Genomic Medicine

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19

Gundula Povysil, Guillaume Butler‐Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal A. Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert J. M. Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J.M. Jones, Bartha Maria Knoppers, Stephen W. Scherer, , Krzysztof Kiryluk

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

Journal of Clinical Investigation · May 27, 2021Peer-reviewedGenetic & Genomic Medicine