Bibliographic Details
| Title: |
Long-read whole-genome analysis of human single cells |
| Authors: |
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 |
| Source: |
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023) |
| Publisher Information: |
Nature Portfolio, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Science |
| Subject Terms: |
Science |
| More Details: |
Abstract Long-read sequencing has dramatically increased our understanding of human genome variation. Here, we demonstrate that long-read technology can give new insights into the genomic architecture of individual cells. Clonally expanded CD8+ T-cells from a human donor were subjected to droplet-based multiple displacement amplification (dMDA) to generate long molecules with reduced bias. PacBio sequencing generated up to 40% genome coverage per single-cell, enabling detection of single nucleotide variants (SNVs), structural variants (SVs), and tandem repeats, also in regions inaccessible by short reads. 28 somatic SNVs were detected, including one case of mitochondrial heteroplasmy. 5473 high-confidence SVs/cell were discovered, a sixteen-fold increase compared to Illumina-based results from clonally related cells. Single-cell de novo assembly generated a genome size of up to 598 Mb and 1762 (12.8%) complete gene models. In summary, our work shows the promise of long-read sequencing toward characterization of the full spectrum of genetic variation in single cells. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2041-1723 |
| Relation: |
https://doaj.org/toc/2041-1723 |
| DOI: |
10.1038/s41467-023-40898-3 |
| Access URL: |
https://doaj.org/article/efffad5a10524d999abe2caf7681ce2d |
| Accession Number: |
edsdoj.fffad5a10524d999abe2caf7681ce2d |
| Database: |
Directory of Open Access Journals |
