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

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...

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Veröffentlicht in:	BMC medical genetics 2016-01, Vol.17 (1), p.1, Article 1
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Abnormalities, Multiple - genetics Alleles Analysis Cerebellum - abnormalities Chromosome Mapping Ciliary Motility Disorders - diagnosis Ciliary Motility Disorders - genetics Cohort Studies Diagnostic tests DNA Copy Number Variations DNA sequencing Encephalocele - diagnosis Encephalocele - genetics Exome Exons Eye Abnormalities - diagnosis Eye Abnormalities - genetics Genes Genetic Testing Genomes Genomics Genotype & phenotype High-Throughput Nucleotide Sequencing Humans Kidney Diseases, Cystic - diagnosis Kidney Diseases, Cystic - genetics Laboratories Mutation Nucleotide sequencing Polycystic Kidney Diseases - diagnosis Polycystic Kidney Diseases - genetics Prenatal Diagnosis Retina - abnormalities Retinitis Pigmentosa Sequence Analysis, DNA Sequence Deletion
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