Search: onr:"swepub:oai:DiVA.org:kth-336707" >
Long-read whole-gen...
Long-read whole-genome analysis of human single cells
-
- Hård, Joanna (author)
- Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland; ETH AI Center, ETH Zurich, Zurich, Switzerland
-
- Mold, Jeff E. (author)
- Karolinska Institutet
-
- Eisfeldt, Jesper (author)
- Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
-
show more...
-
- Tellgren-Roth, Christian, 1971- (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
-
- Häggqvist, Susana (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
-
- Bunikis, Ignas (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi
-
- Contreras-Lopez, Orlando (author)
- KTH,Genteknologi,Science for Life Laboratory, SciLifeLab
-
- Chin, Chen Shan (author)
- GeneDX LLC, Stamford, CT, 06902, USA
-
- Nordlund, Jessica (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär precisionsmedicin
-
- Rubin, Carl-Johan (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi
-
- Feuk, Lars (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Genomik och neurobiologi
-
- Michaëlsson, Jakob (author)
- Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden
-
- Ameur, Adam (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
-
show less...
-
(creator_code:org_t)
- Springer Nature, 2023
- 2023
- English.
-
In: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://uu.diva-port... (primary) (Raw object)
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
http://kipublication...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- NATURVETENSKAP -- Data- och informationsvetenskap -- Bioinformatik (hsv//swe)
- NATURAL SCIENCES -- Computer and Information Sciences -- Bioinformatics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Hård, Joanna
-
Mold, Jeff E.
-
Eisfeldt, Jesper
-
Tellgren-Roth, C ...
-
Häggqvist, Susan ...
-
Bunikis, Ignas
-
show more...
-
Contreras-Lopez, ...
-
Chin, Chen Shan
-
Nordlund, Jessic ...
-
Rubin, Carl-Joha ...
-
Feuk, Lars
-
Michaëlsson, Jak ...
-
Ameur, Adam
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
-
- NATURAL SCIENCES
-
NATURAL SCIENCES
-
and Biological Scien ...
-
and Genetics
-
- NATURAL SCIENCES
-
NATURAL SCIENCES
-
and Computer and Inf ...
-
and Bioinformatics
- Articles in the publication
-
Nature Communica ...
- By the university
-
Royal Institute of Technology
-
Uppsala University
-
Karolinska Institutet