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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

A schematic representation of SplazerS-identified breakpoint-spanning reads for (a) the intragenic AHI1 deletion and (b) the intergenic TMEM237 to MPP4 deletion. Red and blue arrowed boxes denote reads mapping to the (+) and (−) strands respectively. Black tracks contain the names of RepeatMasker-identified sequence elements. Genomic coordinates are for build hg19. Chromosome

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BMC Medical Genetics

ISSN: 1471-2350

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