Author

Jenny M. Ekholm

Pacific Biosciences (United States)ORCID 0000-0002-9035-865XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:genome assembly· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Alexander J. NederbragtiD· 1 shared Ari Grudo· 1 shared Ave Tooming‐KlunderudiD· 1 shared Bastiaan StariD· 1 shared Brian P. WalenziD· 1 shared Christina A. GurnettiD· 1 shared Elvisa MehinoviciD· 1 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Aaron M. WengerORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewedApr 2, 2022

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy

Elvisa Mehinovic, Teddi Gray, Meghan C. Campbell…·Tychele N. Turner

The paper identifies a de novo missense variant in KCNC2 in two affected siblings with autism and epilepsy using long-read sequencing, showing its potential clinical relevance.

14 citations

humanlong-read sequencing

𝕏 PostBluesky

GenomicsBMC GenomicsPeer-reviewedJan 17, 2017

An improved genome assembly uncovers prolific tandem repeats in Atlantic cod

Ole K. Tørresen, Bastiaan Star, Sissel Jentoft…·Alexander J. Nederbragt

The paper improves the Atlantic cod genome assembly using long-read sequencing and multiple assembly programs, revealing a high density of tandem repeats and heterozygous variation.

155 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky