Author

Awaisa Ghazal

University of Helsinki

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:electronic health records· 2 Research Focus:GWAS / association mapping· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1

Frequent Co-Authors

Andrea GannaiD· 4 shared Aoxing LiuiD· 4 shared Timo Petteri SipilaiD· 4 shared Mary Pat ReeveiD· 3 shared Mervi AavikkoiD· 3 shared Arto LehistöiD· 2 shared Arto MannermaaiD· 2 shared Athena MatakidouiD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Andrea GannaORCID

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4 papers

Recent·Most cited

Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank

Shanlee Davis, Aoxing Liu, Craig Carl Teerlink, Dana M. Lapato, Bryan R. Gorman, Giulio Genovese, Madhurbain Singh, Mary Pat Reeve, Amanda Elswick Gentry, Kati M. Donner, Timo Petteri Sipila, Awaisa Ghazal, Meghana S. Pagadala, Matthew S. Panizzon, Eva E. Lancaster, , Richard L. Hauger

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

medRxiv · Jan 31, 2025 · PreprintGenetic & Genomic Medicine

A FinnGen pilot clinical recall study for Alzheimer's disease

Valtteri Julkunen, Claudia Schwarz, Juho Kalapudas, Merja Hallikainen, Aino‐Kaisa Piironen, Arto Mannermaa, Hanna Kujala, T. Laitinen, Veli‐Matti Kosma, Teemu I. Paajanen, Reetta K. Kälviäinen, Mikko Hiltunen, Sanna‐Kaisa Herukka, Sari Kärkkäinen, Tarja Kokkola, , Zhihao Ding

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

Scientific Reports · Aug 3, 2023Peer-reviewedGenetic & Genomic Medicine

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

Aoxing Liu, Giulio Genovese, Yajie Zhao, Matti Pirinen, Seyedeh Maryam Zekavat, Katherine A. Kentistou, Zhiyu Yang, Kai Fun Yu, Caitlyn Vlasschaert, Xiaoxi Liu, Derek W. Brown, Georgi Hudjashov, Bryan R. Gorman, Joe Dennis, Weiyin Zhou, , Mitchell J. Machiela

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

medRxiv · Jan 28, 2023 · PreprintGenetic & Genomic Medicine

FinnGen: Unique genetic insights from combining isolated population and national health register data

Mitja Kurki, Juha M Karjalainen, Priit Palta, Timo Petteri Sipila, Kati Kristiansson, Kati M. Donner, Mary Pat Reeve, Hannele M. Laivuori, Mervi Aavikko, Mari Anneli Kaunisto, Anu Loukola, Elisa Lahtela, Hannele Mattsson, Päivi Laiho, Pietro Della Briotta Parolo, , Marianna Niemi

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

medRxiv · Mar 3, 2022 · PreprintGenetic & Genomic Medicine✦ In-depth digest