Author

Kevin J. Arvai

ORCID 0000-0001-8751-8918Unclaimed 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· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Alison YeungiD· 2 shared Caroline Fiona WrightiD· 2 shared Christian GilisseniD· 2 shared David R FitzPatrickiD· 2 shared DDD Study· 2 shared Elke de BoeriD· 2 shared Eugene J. GardneriD· 2 shared Giuseppe GalloneiD· 2 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Alison YeungORCID

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3 papers

Recent·Most cited

GenomicsbioRxivPreprintApr 1, 2020

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel…·Kyle Retterer

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

36 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintDec 9, 2019

Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel…·Kyle Retterer

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

15 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsGigaSciencePeer-reviewedJun 1, 2019

Open Humans: A platform for participant-centered research and personal data exploration

Bastian Greshake Tzovaras, Misha H. Angrist, Kevin J. Arvai…·Mad Price Ball

Open Humans is a platform that aggregates personal data from various sources, enabling participant-centered research and data exploration while balancing privacy and autonomy.

56 citations

database / resource

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