Author

Byung Chan Lim

Seoul National UniversityORCID 0000-0002-8509-4135Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anna ChoiD· 1 shared Eun Young JeoniD· 1 shared Eunha KimiD· 1 shared Hyoungseok Jeon· 1 shared Hyuna KimiD· 1 shared Jaeso ChoiD· 1 shared Jana Kneissl· 1 shared Jean LeeiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anna ChoORCID

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1 paper

Recent·Most cited

GeneticsScientific ReportsPeer-reviewedJan 29, 2020

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Youngha Lee, Soojin Park, Jin Sook Lee…·Jong‐Hee Chae

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

6 citations

humanwhole-exome sequencing

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