Author

Alex Mackay

AstraZeneca (Sweden)

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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Genomics· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Adam PlattiD· 3 shared Daniel MuthasiD· 3 shared Henric OlssoniD· 3 shared Quanli WangiD· 3 shared Slavé PetrovskiiD· 3 shared Sri V. V. DeeviiD· 3 shared Abhishek NagiD· 2 shared Carolina HaefligeriD· 2 shared

Activity by Year

2020-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Adam PlattORCID

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Author profile →

3 papers

Recent·Most cited

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

Quanli Wang, Ryan S. Dhindsa, Keren Carss, Andrew Robert Harper, Abhishek Nag, Ioanna Tachmazidou, Dimitrios Vitsios, Sri V. V. Deevi, Alex Mackay, Daniel Muthas, Michael H. Hühn, Susan J. Monkley, Henric Olsson, Sebastian Wasilewski, Katherine R. Smith, , AstraZeneca Genomics Initiative

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

bioRxiv · Dec 13, 2020 · PreprintGenomics

A broad exome study of the genetic architecture of asthma reveals novel patient subgroups

Sophia Cameron‐Christie, Alex Mackay, Quanli Wang, Henric Olsson, B. Angermann, Glenda Lassi, Julia Lindgren, Michael H. Hühn, Yoichiro Ohne, Monica L. Gavala, Jingya Wang, Gundula Povysil, Sri V. V. Deevi, Graham Belfield, Inken Dillmann, , Slavé Petrovski

This study uses exome data from 24,576 asthma cases and 120,530 controls to identify rare variants associated with asthma risk, revealing novel subgroups and gene effects.

bioRxiv · Dec 10, 2020 · PreprintGenomics

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Ryan S. Dhindsa, Johan Mattsson, Abhishek Nag, Quanli Wang, Louise V. Wain, Richard J. Allen, Eleanor M. Wigmore, Kristina Ibáñez, Dimitrios Vitsios, Sri V. V. Deevi, Sebastian Wasilewski, Maria Karlsson, Glenda Lassi, Henric Olsson, Daniel Muthas, , Slavé Petrovski

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

bioRxiv · Jun 29, 2020 · PreprintGenetics