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Fig. 5 | BMC Bioinformatics

Fig. 5

From: Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management

Fig. 5

Newly identified CACNA1A mutation. a The newly identified heterozygous CACNA1A mutation NM_001127221:c.T4535C:p.I1512T was confirmed via Sanger sequencing on both DNA strands. b The mutation was correctly identified by both trimming and MiSeq pipelines. The first alignment results from MiSeq pipeline, while the second from trimming pipeline. Alignment qualities and parameters are highly similar between the different pipelines

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