"NanoDel": identification of large-scale mitochondrial DNA deletions using long-read sequencing.

NanoDel, a long-read sequencing pipeline, detects large-scale mitochondrial DNA deletions with higher sensitivity and accuracy than existing methods, identifying both known and novel deletions.

• Why it matters: Accurate detection of mitochondrial DNA deletions is crucial for understanding mitochondrial diseases and mtDNA instability, but current techniques are limited by sensitivity, quantification, and the need for prior knowledge.
• What they did: Researchers developed "NanoDel," a bioinformatics pipeline utilizing long-read sequencing and splice-aware alignment, tested on artificial and clinical samples, demonstrating superior performance in identifying LSMDs.
• The result: "NanoDel" effectively detects LSMDs across diverse tissues, revealing potential sequence motifs involved in deletion formation, and offers a robust tool for advancing mitochondrial research and diagnostics.