ESPEYB21 14. The Year in Science and Medicine Epi-/Genetics (3 abstracts)
14.6. Long-read whole-genome analysis of human single cells
Joanna Hård , Jeff E. Mold , Jesper Eisfeldt , Christian Tellgren-Roth , Susana Häggqvist , Ignas Bunikis , Orlando Contreras-Lopez , Chen-Shan Chin , Jessica Nordlund , Carl-Johan Rubin , Lars Feuk , Jakob Michaëlsson & Adam Ameur
Nature Communications (2023) 14:5164. doi: 10.1038/s41467-023-40898-3
Brief Summary:Using a new method, long DNA fragments from single human T-cells were sequenced after refined automated single-cell processing and droplet-based whole-genome amplification using PacBio HiFi sequencing. Compared to short-read technologies, the new long-read method markedly improved analyses of genetic variants, especially complex structural variations and variants in repeat elements; it also allowed de novo assembly of parts of the single-cell genome.
Long-read whole-genome analysis is a new genetic method characterized by fragment reads thousands of bases long (compared to 50–300 base pairs with short-reads). This allows for better reconstruction of complex genomic regions, structural variations, as well as repetitive sequences. It therefore provides a more comprehensive view of the genome.
Human single cell whole-genome sequencing is also a new field of interest. It has potential to provide deeper insight into cell biology, including somatic genetic variation, de novo mutation rates, tumor evolution, or meiotic recombination of germ cells. So far technical challenges precluded the use of long-read WGS for single cell analysis, but these now provide novel methodological solutions to overcome these problems.
Is this just about methods? – Clearly no! In the past, all advances in genetic methods resulted in an ‘avalanche’ of progress in many fields of biology. It is therefore important to get informed about new techniques as they may open doors for solving open research questions that we could not solve because of unsurpassed methodological issues.
Volume 21
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ESPE Yearbook of Paediatric Endocrinology
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