Author

Giles S. Holt

Newcastle UniversityORCID 0000-0002-7494-3736Unclaimed 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 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

B. AlobaidiiD· 2 shared Joris Andre VeltmaniD· 2 shared Liliana RamosiD· 2 shared Lois E. Batty· 2 shared Manon S. OudiD· 2 shared Miguel Joao XavieriD· 2 shared Alberto BarrosiD· 1 shared Alexandra Manuel LopesiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

B. AlobaidiORCID

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2 papers

Recent·Most cited

Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach

Giles S. Holt, Lois E. Batty, B. Alobaidi, Hannah Smith, Manon S. Oud, Liliana Ramos, Miguel Joao Xavier, Joris Andre Veltman

This study phases de novo mutations using a combined long-read and short-read sequencing approach, successfully determining parent-of-origin for 71% of analyzed mutations.

Human Mutation · Sep 1, 2022Peer-reviewedGenomics

A de novo paradigm for male infertility

Manon S. Oud, RM Smits, H E Smith, Francesco Kumara Mastrorosa, Giles S. Holt, Brendan J. Houston, Petra F. de Vries, B. Alobaidi, Lois E. Batty, H. Ismail, J. Greenwood, Harsh J. Sheth, Aneta Mikulášová, Galuh Astuti, Christian Gilissen, , Joris Andre Veltman

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

Nature Communications · Jan 10, 2022Peer-reviewedGenetics