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Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Lookup NU author(s): Dr Eric OlingerORCiD, Dr Ian Wilson, Sarah Orr, Miguel Barroso Gil, Ruxandra Neatu, Professor John SayerORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

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Author(s): Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R, Genomics England Research Consortium, Atan D, Sayer JA

Publication type: Article

Publication status: Published

Journal: Genetics in Medicine Open

Year: 2024

Volume: 2

Print publication date: 08/04/2024

Online publication date: 29/02/2024

Acceptance date: 23/02/2024

Date deposited: 09/08/2024

ISSN (electronic): 2949-7744

Publisher: Elsevier Inc.

URL: https://doi.org/10.1016/j.gimo.2024.101834

DOI: 10.1016/j.gimo.2024.101834

Data Access Statement: Data that support the findings of this study are available on request from the corresponding author with patient privacy restrictions. Script files and workflow for CNV calling pipeline SYNOD (Simple copY Numbers frOm Depth) have been deposited under https://github.com/ijwilson/SYNOD.

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