Author

John E. Niederhuber

Inova Health SystemORCID 0000-0003-4730-8347Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Developmental Biology· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Organism:mouse· 1

Frequent Co-Authors

Wendy S.W. WongiD· 3 shared Dale L. Bodian· 2 shared Abul UsmaniiD· 1 shared Ana C. LimaiD· 1 shared Arthur S. LeeiD· 1 shared Benjamin D. SolomoniD· 1 shared Christian GilisseniD· 1 shared Donald F. ConradiD· 1 shared

Activity by Year

2017-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersGenomics

Wendy S.W. WongORCID

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3 papers

Recent·Most cited

GenomicsNature GeneticsPeer-reviewedMar 1, 2018

Germline De Novo Mutation Clusters Arise During Oocyte Aging In Genomic Regions With Increased Double-Strand Break Incidence

Jakob M. Goldmann, Vladimir B. Seplyarskiy, Wendy S.W. Wong…·John E. Niederhuber

The paper identifies maternal age-related mutation clusters in germline de novo mutations linked to double-strand break processes.

89 citationstop 3%

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintDec 28, 2017

Mendelian inheritance errors in whole genome sequenced trios are enriched in repeats and cluster within copy number losses

Prachi Kothiyal, Wendy S.W. Wong, Dale L. Bodian, John E. Niederhuber

The paper analyzes Mendelian inheritance errors in whole genome sequenced trios, finding they are enriched in repeats and cluster in copy number loss regions, providing population-specific profiles for quality control.

DOI 10.1101/240424

humanwhole-genome sequencing

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Developmental BiologybioRxivPreprintDec 14, 2017

The complement system supports normal postnatal development and gonadal function in both sexes

Arthur S. Lee, Jannette Rusch, Abul Usmani…·Donald F. Conrad

The paper identifies CSMD1 variants linked to gonadal function in both sexes and shows that Csmd1 knockout mice have reproductive defects, implicating the complement system in postnatal development.

2 citations

mousestatistical model

𝕏 PostBluesky