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Status |
Public on Dec 08, 2021 |
Title |
Mitochondrial variant enrichment from high-throughput single-cell RNA-seq resolves clonal populations |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Other
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Summary |
Reconstructing lineage relationships in complex tissues can reveal mechanisms underlying development and disease. Recent methods combine single-cell transcriptomics with mitochondrial DNA variant detection to establish lineage relationships in primary human cells, but are not scalable to interrogate complex tissues. To overcome this limitation, here we develop a technology for high-confidence detection of mitochondrial mutations from high-throughput single-cell RNA-sequencing. We use the new method to identify skewed immune cell expansions in primary human clonal hematopoiesis.
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Overall design |
This project demonstrates a new technology to enrich mitochondrial DNA (mtDNA) mutations from 3' single-cell RNA-seq (scRNA-seq) libraries. The technology is termed MAESTER, or Mitochondrial Alteration Enrichment from Single-cell Transcriptomes to Establish Relatedness.
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Contributor(s) |
Miller TE, Lareau CA, Verga JA, DePasquale EA, Liu V, Ssozi D, Sandor K, Yin Y, Ludwig LS, El Farran CA, Morgan DM, Satpathy AT, Griffin GK, Lane AA, Love JC, Bernstein BE, Sankaran VG, Van Galen P |
Citation(s) |
35210612 |
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Submission date |
Aug 24, 2021 |
Last update date |
Mar 12, 2022 |
Contact name |
Peter van Galen |
E-mail(s) |
petervangalen@gmail.com, pvangalen@bwh.harvard.edu
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Organization name |
Brigham and Women's Hospital / Broad Institute of MIT and Harvard
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Department |
Hematology
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Lab |
Van Galen Lab
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Street address |
4 Blackfan Circle
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City |
Boston |
State/province |
Massachusetts |
ZIP/Postal code |
02115 |
Country |
USA |
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Platforms (3) |
GPL15520 |
Illumina MiSeq (Homo sapiens) |
GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
GPL24676 |
Illumina NovaSeq 6000 (Homo sapiens) |
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Samples (22)
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Relations |
BioProject |
PRJNA757424 |
SRA |
SRP333921 |
Supplementary file |
Size |
Download |
File type/resource |
GSE182685_ASXL1.1898.FilteredCells.txt.gz |
456 b |
(ftp)(http) |
TXT |
GSE182685_MGH252_A_C_Expression.txt.gz |
17.7 Mb |
(ftp)(http) |
TXT |
GSE182685_MGH252_A_C_PBMC_MetaData.txt.gz |
271.1 Kb |
(ftp)(http) |
TXT |
GSE182685_RAW.tar |
2.2 Gb |
(http)(custom) |
TAR (of CSV, H5, RDS, TSV, TXT) |
SRA Run Selector |
Raw data are available in SRA |
Processed data provided as supplementary file |
Processed data are available on Series record |
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