Mitochondrial variant enrichment from high-throughput single-cell RNA sequencing resolves clonal populations

被引：58

作者：

Miller, Tyler E. ^{[1
,2
]}

Lareau, Caleb A. ^{[2
,4
,5
,6
,7
]}

Verga, Julia A. ^{[2
,3
]}

DePasquale, Erica A. K. ^{[2
,8
]}

Liu, Vincent ^{[4
,5
]}

Ssozi, Daniel ^{[2
,8
]}

Sandor, Katalin ^{[4
]}

Yin, Yajie ^{[4
]}

Ludwig, Leif S. ^{[2
,6
,7
,9
]}

El Farran, Chadi A. ^{[2
,3
]}

Morgan, Duncan M. ^{[10
,11
]}

Satpathy, Ansuman T. ^{[4
]}

Griffin, Gabriel K. ^{[2
,12
]}

Lane, Andrew A. ^{[2
,13
,14
]}

Love, J. Christopher ^{[2
,10
]}

Bernstein, Bradley E. ^{[2
,3
,14
,15
,16
]}

Sankaran, Vijay G. ^{[2
,6
,7
]}

van Galen, Peter ^{[2
,8
,14
]}

机构：

[1] Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA

[2] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[3] Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02115 USA

[4] Stanford Univ, Dept Pathol, Stanford, CA 94305 USA

[5] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[6] Harvard Med Sch, Boston Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA

[7] Harvard Med Sch, Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

[8] Harvard Med Sch, Dept Med, Brigham & Womens Hosp, Div Hematol, Boston, MA 02115 USA

[9] Charite Univ Med Berlin, Berlin Inst Hlth, Berlin Inst Med Syst Biol, Max Delbruck Ctr Mol Med Helmholtz Assoc, Berlin, Germany

[10] MIT, Dept Chem Engn, Cambridge, MA 02139 USA

[11] MIT, Koch Inst Integrat Canc Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA

[12] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA

[13] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[14] Harvard Med Sch, Ludwig Ctr Harvard, Boston, MA 02115 USA

[15] Harvard Med Sch, Dept Cell Biol, Boston, MA 02115 USA

[16] Harvard Med Sch, Dept Pathol, Boston, MA 02115 USA

来源：

NATURE BIOTECHNOLOGY | 2022年 / 40卷 / 07期

基金：

美国国家卫生研究院;

关键词：

TET2;

D O I：

10.1038/s41587-022-01210-8

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

The combination of single-cell transcriptomics with mitochondrial DNA variant detection can be used to establish lineage relationships in primary human cells, but current methods are not scalable to interrogate complex tissues. Here, we combine common 3' single-cell RNA-sequencing protocols with mitochondrial transcriptome enrichment to increase coverage by more than 50-fold, enabling high-confidence mutation detection. The method successfully identifies skewed immune-cell expansions in primary human clonal hematopoiesis.

引用

页码：1030 / +

页数：12

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