Author

Harry Bowles

King's College LondonORCID 0000-0002-4072-5255Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alfredo IacoangeliiD· 3 shared Ammar Al‐ChalabiiD· 3 shared Ahmad Al KhleifatiD· 2 shared Ashley JonesiD· 2 shared Chad M. SwansoniD· 2 shared John Peter QuinniD· 2 shared Renata KabiljoiD· 2 shared Richard DobsoniD· 2 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersBioinformatics

Alfredo IacoangeliORCID

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3 papers

Recent·Most cited

An assessment of bioinformatics tools for the detection of human endogenous retroviral insertions in short-read genome sequencing data

Harry Bowles, Renata Kabiljo, Ashley Jones, Ahmad Al Khleifat, John Peter Quinn, Richard Dobson, Chad M. Swanson, Ammar Al‐Chalabi, Alfredo Iacoangeli

The paper evaluates bioinformatics tools for detecting human endogenous retroviral insertions in short-read genome sequencing data, finding performance variability across datasets and recommending a consensus approach.

Frontiers in Bioinformatics · Feb 8, 2023Peer-reviewedBioinformatics

Calculating variant penetrance using family history of disease and population data

Thomas P Spargo, Sarah Opie-Martin, Harry Bowles, Cathryn M. Lewis, Alfredo Iacoangeli, Ammar Al‐Chalabi

This paper introduces a method to estimate penetrance for autosomal dominant traits using population data and family history, validated through simulations and case studies.

Genome Medicine · Dec 15, 2022Peer-reviewedGenetic & Genomic Medicine

RetroSnake: a Modular End-to-End Pipeline for Detection of Human Endogenous Retrovirus (HERV) Transposable Elements in Next Generation Sequencing (NGS) Data

Renata Kabiljo, Harry Bowles, Heather Marriott, Ashley Jones, Richard Dobson, John Peter Quinn, Chad M. Swanson, Ahmad Al Khleifat, Ammar Al‐Chalabi, Alfredo Iacoangeli

RetroSnake detects HERVs in NGS data using an end-to-end pipeline validated by wet-lab experiments, producing annotated insertions in an interactive HTML file.

bioRxiv · Apr 8, 2022 · PreprintGenomics