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- W3093397456 abstract "Mitochondria, heralded as the powerhouses of the cell, contain small, highly-conserved genomes. This mitochondrial DNA (mtDNA) is abundant in most eukaryotic cells, reflecting its crucial role in providing protein subunits that are necessary for oxidative phosphorylation. mtDNA is asexually transmitted through the maternal germline but the precise mechanisms that govern the maintenance of genomic integrity through the generations are still a focus of research and lively debate. The general consensus is that germline mitochondria undergo a population bottleneck and are exposed to strong purifying selection, a combination that can generate a high degree of genetic variability among offspring. Details are lacking, however, on the exact structure of the bottleneck and timing of selective pressures. Current mtDNA sequencing strategies that aim to elucidate these topics largely rely on Next Generation Sequencing (NGS) datasets that provide an abundance of data but provide no insight into mtDNA as discrete and diverse genetic elements. This research offers a high-resolution analysis of mtDNA in oocytes, with a particular focus on low-frequency variants that are often overlooked by NGS approaches but could have important clinical significance. To further enhance this whole-mtDNA genome sequencing approach, this work describes a novel sequencing strategy that couples Oxford Nanopore's long single-read capabilities with unique molecular identifiers that can generate highly accurate consensus sequences and ultimately capture the true genetic diversity of mtDNA populations.--Author's abstract" @default.
- W3093397456 created "2020-10-22" @default.
- W3093397456 creator A5083877700 @default.
- W3093397456 date "2021-01-19" @default.
- W3093397456 modified "2023-10-14" @default.
- W3093397456 title "High-resolution sequencing of mitochondrial DNA" @default.
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- W3093397456 doi "https://doi.org/10.17760/d20382805" @default.
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