Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified Whole Exome Sequencing and Long-Read Whole-Genome Sequencing.

Duchenne muscular dystrophy (DMD), one of the most common progressive and severely disabling neuromuscular diseases in children, can be largely attributed to the loss of function of the gene on chromosome Xp21.2-p21.1.

Performance comparison of NextSeq and Ion Proton platforms for molecular diagnosis of clinical oncology.

Purpose: Next-generation sequencing is a powerful approach to detect genetic mutations with which cancer diagnosis and treatment can be tailored to the individual patient in the era of personalized and precision medicine. Ion Torrent Systems Ion Proton and Illumina NextSeq are 2 major targeted sequencing platforms; however, not much work has been done to compare these platforms' performance for mutation detection in formalin-fixed paraffin-embedded (FFPE) materials.

Methods: We benchmarked the performance by using a collection of FFPE samples from 23 patients with different cancers for NextSeq and Ion Proton platforms.