Author

Jonathan P. Williams

Churchill HospitalORCID 0000-0003-2672-2450Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:experimental assay· 1 Research Focus:genome assembly· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared Andrea Hilary NemethiD· 1 shared Andrew O.M. WilkieiD· 1 shared Angela Bloss· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 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 paperGenetics

Abhijit DixitORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsbioRxivPreprintJul 26, 2022

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush…·Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

BioinformaticsFrontiers in ImmunologyPeer-reviewedOct 9, 2020

Efficient Sequencing, Assembly, and Annotation of Human KIR Haplotypes

David Roe, Jonathan P. Williams, Keyton Ivery…·Martin J. Maiers

The paper presents a method using long-read sequencing to efficiently assemble and annotate diploid human KIR haplotypes with high accuracy and coverage.

17 citations

humanwhole-genome sequencing

𝕏 PostBluesky