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Article

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

BMC medical genetics - 4 Jan 2016

Watson Christopher M, Crinnion Laura A, Berry Ian R, Harrison Sally M, Lascelles Carolina, Antanaviciute Agne, Charlton Ruth S, Dobbie Angus, Carr Ian M, Bonthron David T

Abstract excerpt

BACKGROUND: The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have been a particular focus of many new services. Here we report a cohort of 26 patients referred for genetic analysis of Joubert (JBTS) and Meckel-Gruber (MKS) syndromes, two clinically and genetically...

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Identifiers

PMID: 26729329
DOI: 10.1186/s12881-015-0265-z
PMCID: PMC4700600

Genes

AHI1
MPP4

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