Work

P640: Amplification and long-read sequencing of the mitochondrial genome

Year: 2024

Type: article

Abstract: Determination of disease-causing variants in the mitochondrial genome (mtDNA) is essential for adequate patient diagnosis, prognosis, and treatment. Capturing single nucleotide variants, indels, and deletions, along with accurately determining level of plasmy, is complicated by homology between mtDNA and the nuclear genome. With the goal of performing increasingly accurate mtDNA sequencing and heteroplasmy evaluation in a high-throughput setting, we evaluated long read amplicon sequencing for the 16.5 kb mtDNA using a PacBio Sequel IIe.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101546

Authors: Julianna Spangler, Aaron Johnson, Jessica Noya, Shamila Yusuff, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Jason Chin, Gustavo Stolovitzky, Scott Newman, Joseph Devaney

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W4392616547

FWCI:

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