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Journal of Clinical Immunology

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01-04-2019 | Letter to Editor

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency

Published in: Journal of Clinical Immunology | Issue 3/2019

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Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.CrossRefPubMedPubMedCentral

Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2013;15:571–7.CrossRef

Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.

Department of Health and Social Care. Matt Hancock announces ambition to map 5 million genomes. https://www.gov.uk/government/news/matt-hancock-announces-ambition-to-map-5-million-genomes. Last accessed: 29th October 2018.

Ellingford JM, Beaman G, Webb K, O’Callaghan C, Hirst RA, on behalf of the 100,000 Genomes Project, Black GCM, Newman WG. Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia. bioRxiv 2018;438838. https://doi.org/10.1101/438838.

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10.

Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.

Title: RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Publication date: 01-04-2019
Published in: Journal of Clinical Immunology / Issue 3/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00625-4

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