Author

Maria-Mercedes Garcia-Barcelo

University of Hong Kong

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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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Binbin WangiD· 1 shared Clara Sze-Man TangiD· 1 shared Hui JiangiD· 1 shared Lin JiangiD· 1 shared Miaoxin LiiD· 1 shared Mulin Jun LiiD· 1 shared Pak Chung ShamiD· 1 shared Paul Kwong Hang TamiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Binbin WangORCID

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1 paper

Recent·Most cited

GeneticsNucleic Acids ResearchPeer-reviewedDec 4, 2021

Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases

Lin Jiang, Hui Jiang, Sheng Dai…·Miaoxin Li

This paper introduces a new statistical method, RUNNER, to detect rare variants associated with complex diseases by comparing observed mutation burdens to predicted baseline values, showing improved power over existing methods.

10 citations

whole-exome sequencingstatistical model

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