Author

Alan I. Packer

Simons FoundationORCID 0000-0002-3171-8192Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron K. WongiD· 1 shared Alexandre MathieuiD· 1 shared Anders Dupont BørglumiD· 1 shared Anna MaruaniiD· 1 shared Chandra L. TheesfeldiD· 1 shared Christopher Y. Park· 1 shared Claire S. LeblondiD· 1 shared Clara A. MoreauiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

Aaron K. WongORCID

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2 papers

Recent·Most cited

Sub-diagnostic effects of genetic variants associated with autism

Thomas Rolland, Freddy Cliquet, Richard Anney, Clara A. Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise A. Douard, Frédérique Amsellem, Simon Malesys, , Thomas Bourgeron

The paper maps the odds ratio for autism associated with rare LoF variants in autism-associated genes and shows sub-diagnostic effects in undiagnosed individuals.

European Neuropsychopharmacology · Sep 23, 2022Peer-reviewedGenetic & Genomic Medicine

Whole-genome deep learning analysis reveals causal role of noncoding mutations in autism

Jian Zhou, Christopher Y. Park, Chandra L. Theesfeld, Aaron K. Wong, Yuan Yuan, Claudia Scheckel, John J. Fak, Julien Funk, Kevin Yao, Yoko Tajima, Alan I. Packer, Robert B. Darnell, Olga G. Troyanskaya

The paper uses deep learning to analyze whole-genome data from ASD families, showing noncoding mutations significantly impact transcriptional and post-transcriptional regulation and contribute to autism.

Nature Genetics · May 27, 2019Peer-reviewedGenomics