Article

Low-coverage genome sequencing for the detection of clinically relevant copy-number and mtDNA variants

2022-09-23

Abstract excerpt

<h4>Background</h4> Compared to exome sequencing, genome sequencing is widely appreciated for its superior ability to detect a wide range of genetic variations including copy-number variants (CNVs) and mitochondrial (mtDNA) variants. We assessed whether low-coverage genome sequencing, a considerably cheaper approach, would detect clinically relevant CNVs and mtDNA variants and would thus be a cost-efficient supple...

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Literature Corpus work: db5f1df2-74ec-5711-b88e-72d7d7c28a87
DOI: 10.1101/2022.09.20.22280155

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