Application Note: Mitochondrial genome analysis with SOPHiA DDM™️ Whole-exome Sequencing

Published on 11/24/2022

< 1 min read

Learn how we addressed the unique challenges associated with genotyping mitochondrial DNA (mtDNA) to develop robust pipelines for mitochondrial genome analysis.

Discover what makes SOPHiA DDM™ effective at calling mtDNA variants from exome sequencing data, and see for yourself how in a single workflow, the SOPHiA DDM™️ Platform complemented by Alamut™️ Visual Plus can be used to identify and interpret variants in mtDNA alongside SNVs, Indels, and CNVs in nuclear DNA.

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