Author

Alasdair P. J. Parker

University of CambridgeORCID 0000-0002-8768-2686Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Sanchis‐JuaniD· 2 shared Christopher J. PenkettiD· 2 shared Courtney E. FrenchiD· 2 shared Detelina GrozevaiD· 2 shared Dragana J. JosifovaiD· 2 shared Eleanor F. Dewhurst· 2 shared Emma L. WakelingiD· 2 shared Aarnoud P. HuissooniD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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2 papers

Recent·Most cited

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Alba Sanchis‐Juan, Karyn Mégy, Jonathan C. Stephens, Camila Armirola-Ricaurte, Eleanor F. Dewhurst, Kay Yi Low, Courtney E. French, Detelina Grozeva, Kathleen E. Stirrups, Marie Erwood, Amy McTague, Christopher J. Penkett, Olga Shamardina, Salih Tuna, Louise C. Daugherty, , Keren Carss

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The American Journal of Human Genetics · Aug 1, 2023Peer-reviewedGenetic & Genomic Medicine

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics