scispace - formally typeset
Search or ask a question
Journal ArticleDOI

Seq-Well: portable, low-cost RNA sequencing of single cells at high throughput

TL;DR: Seq-Well is presented, a portable, low-cost platform for massively parallel single-cell RNA-seq that is used to profile thousands of primary human macrophages exposed to Mycobacterium tuberculosis.
Abstract: Seq-Well provides similar scale and data quality to massively parallel, droplet-based single-cell RNA-seq methods in an easy to use, inexpensive and portable microwell format compatible with low-input samples.

Content maybe subject to copyright    Report

Seq-Well: portable, low-cost RNA
sequencing of single cells at high throughput
The MIT Faculty has made this article openly available. Please share
how this access benefits you. Your story matters.
CitationGierahn, Todd M et al. “Seq-Well: Portable, Low-Cost RNA
Sequencing of Single Cells at High Throughput.” Nature Methods 14,
4 (February 2017): 395–398 © 2017 KSBMB
As Publishedhttp://dx.doi.org/10.1038/NMETH.4179
PublisherSpringer Nature
VersionAuthor's final manuscript
Citable linkhttp://hdl.handle.net/1721.1/113430
Terms of UseCreative Commons Attribution-Noncommercial-Share Alike
Detailed Termshttp://creativecommons.org/licenses/by-nc-sa/4.0/

Seq-Well: A Portable, Low-Cost Platform for High-Throughput
Single-Cell RNA-Seq of Low-Input Samples
Todd M. Gierahn
1,#
, Marc H. Wadsworth II
2,3,4,#
, Travis K. Hughes
2,3,4,#
, Bryan D. Bryson
4,5
,
Andrew Butler
6,7
, Rahul Satija
6,7
, Sarah Fortune
4,5
, J. Christopher Love
1,3,4,*
, and Alex K.
Shalek
2,3,4,*
1
Koch Institute for Integrative Cancer Research, MIT, Cambridge, Massachusetts, USA
2
Institute for Medical Engineering & Science (IMES) and Department of Chemistry, MIT,
Cambridge, Massachusetts, USA
3
Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
4
Ragon Institute of MGH, MIT and Harvard, Cambridge, Massachusetts, USA
5
Department of Immunology and Infectious Diseases, Harvard School of Public Health, Boston,
Massachusetts, USA
6
Center for Genomics and Systems Biology, Department of Biology, New York University, New
York City, New York, USA
7
New York Genome Center, New York City, New York, USA
Abstract
Single-cell RNA-Seq can precisely resolve cellular states but application to sparse samples is
challenging. Here, we present Seq-Well, a portable, low-cost platform for massively-parallel
single-cell RNA-Seq. Barcoded mRNA capture beads and single cells are sealed in an array of
subnanoliter wells using a semi-permeable membrane, enabling efficient cell lysis and transcript
capture. We characterize Seq-Well using species-mixing experiments and PBMCs, and profile
thousands of primary human macrophages exposed to tuberculosis.
Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research,
subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
*
To whom correspondence should be addressed: shalek@mit.edu (AKS), clove@mit.edu (JCL).
#
These authors contributed equally to this work
*
These senior authors contributed equally to this work
DATA AVAILABILITY.
All RNA-Seq data are available in GEO under Accession Number GSE92495.
AUTHOR CONTRIBUTIONS.
TMG, MHW, TKH, JCL, and AKS developed the concepts and designed the study. TG, MHW, TKH, and BDB performed the
experiments. All authors analyzed and interpreted the data. TMG, MHW, TKH, JCL, and AKS wrote the manuscript with feedback
from all authors.
COMPETING FINANCIAL INTERESTS.
T.M. Gierahn, M.H. Wadsworth II, T.K. Hughes, J.C. Love, A.K. Shalek, and Institutions The Broad Institute and the Massachusetts
Institute of Technology have filed a patent application that relates to Seq-Well, compositions of matter, the outlined experimental and
computational methods, and uses thereof.
HHS Public Access
Author manuscript
Nat Methods
. Author manuscript; available in PMC 2017 August 13.
Published in final edited form as:
Nat Methods
. 2017 April ; 14(4): 395–398. doi:10.1038/nmeth.4179.
Author Manuscript Author Manuscript Author Manuscript Author Manuscript

MAIN
The emergence of single-cell genomics has empowered new strategies for identifying the
cellular and subcellular drivers of biological phenomena
1–19
. Patterns in genome-wide
mRNA expression measured by single-cell RNA-Seq (scRNA-Seq) can be leveraged to
uncover distinct cell types, states and circuits within cell populations and tissues
1–5,9–13
. The
unprecedented view of cellular phenotypes scRNA-Seq affords could help transform our
understanding of healthy and diseased behaviors, and guide the rational selection of
precision diagnostics and therapies, if it could be broadly and easily applied to low-input
(≤10
4
cells) clinical specimens.
Typically, scRNA-Seq has involved isolating and lysing individual cells, then independently
reverse transcribing and amplifying their mRNA before generating barcoded libraries that
are pooled for sequencing. Although manual picking
2,5,8
, FACS-sorting
1,3,4
or integrated
microfluidic circuits
7,9,10
can isolate single cells, one-cell-one-sample approaches are
constrained fundamentally in scale by costs, time, and labor. Recently, massively-parallel
methods have emerged that assign unique barcodes to each cell’s mRNAs during reverse
transcription, enabling ensemble processing while retaining single-cell resolution. These
methods typically yield single-cell libraries of lower complexity, but higher throughput
reduces the impact of the technical and intrinsic noise associated with each cell in
analyses
11,12
. The most common variant is microfluidic devices that generate reverse-
emulsion droplets to serially couple single cells with uniquely-barcoded mRNA capture
beads
11,12
. Droplet-based techniques, however, can have inefficiencies in encapsulation,
introduce technical noise through differences in cell lysis time, and require specialized
equipment, limiting where, when, and with what scale scRNA-Seq can be performed.
One alternative is to use arrays of subnanoliter wells loaded by gravity. Operational
simplicity reduces the need for peripheral equipment, decreases dead volumes, and
facilitates parallelization. As proof-of-principle, cells and beads have been co-confined in
unsealed nanowell arrays to perform targeted single-cell transcriptional profiling
13
, yet the
use of an open-array format significantly limits capture efficiency and increases cross-
contamination (Supplementary Fig. 1). To avoid these issues, nanowells have also been
combined with microfluidic channels that facilitate oil-based single-cell isolation via fluid
exchange
14
. Nevertheless, this design limits buffer exchange and necessitated integrated
temperature and pressure controllers, impacting ease-of-use and portability
15
. Semi-porous-
membrane-covered nanowells have been used to link pairs of specific transcripts from single
cells
16
; however, transcript capture and sealing efficiency were not addressed, and unique
single-cell libraries were not achieved using many beads per well.
To overcome these assorted challenges, we have developed Seq-Well, a portable, simple
platform for massively-parallel scRNA-Seq (Supplementary Fig. 2). Similar to previous
nanowell-based implementations, Seq-Well confines single cells and barcoded poly(dT)
mRNA capture beads in a PDMS array of ~86,000 subnanoliter wells. Designing well
dimensions to accommodate only one bead enables single-bead loading efficiencies of ~95%
(Figure 1a, Supplementary Fig. 3a; Supplementary Video 1). A simplified cell-loading
scheme, in turn, enables capture efficiencies around 80% (Methods; Supplementary Fig.
Gierahn et al. Page 2
Nat Methods
. Author manuscript; available in PMC 2017 August 13.
Author Manuscript Author Manuscript Author Manuscript Author Manuscript

3b), with a rate of dual occupancy that can be tuned by adjusting the number of cells loaded
and visualized prior to processing (Supplementary Fig. 3c).
Importantly, Seq-Well uniquely leverages selective chemical functionalization to facilitate
reversible attachment of a semi-permeable polycarbonate membrane (10 nm pore size) in
physiologic buffers. This trait enables rapid solution exchange for efficient cell lysis but
traps biological macromolecules, increasing transcript capture during hybridization and
reducing cross-contamination (Supplementary Fig. 4a; Supplementary Protocol;
Supplementary Video 2). The array’s unique three-layer surface functionalization comprises
an amino-silane base
20
crosslinked to bifunctional poly(glutamate)/chitosan top via a
p-
Phenylene diisothiocyante intermediate (Methods; Supplementary Fig. 4); this bifunctional
top, with poly(glutamate) coating the inner surfaces of the nanowells (where cells are lysed)
and chitosan the array’s top surface (where the membrane binds), prevents non-specific
binding of RNA to the array and efficient sealing, respectively (Methods; Supplementary
Protocol; Supplementary Fig. 4b,c). To test sealing and buffer exchange, we monitored the
fluorescence of dye-labeled, cell-bound antibodies before and after adding a guanidinium-
based lysis buffer. We observed rapid diffusion of the antibodies throughout the wells within
five minutes of buffer addition and, unlike unsealed or previously-described, membrane-
covered BSA-blocked arrays
16
, little change in fluorescent signal over 30 minutes,
suggesting robust retention of biological macromolecules despite use of a strong chaotrope
(Methods; Supplementary Fig. 5).
After lysis, cellular mRNAs are captured by bead-bound poly(dT) oligonucleotides that also
contain a universal primer sequence, a cell barcode, and a unique molecular identifier (UMI)
(Methods; Supplementary Table 1). Next, the membrane is peeled off and the beads are
removed for subsequent bulk reverse transcription, amplification, library preparation and
paired-end sequencing, as previously described
12
(Methods). Critically, beyond a disposable
array and membrane, Seq-Well only requires a pipette, a manual clamp, an oven, and a tube
rotator to achieve stable, barcoded single-cell cDNAs (Fig. 1a), enabling it to be performed
almost anywhere.
To assess transcript capture efficiency and single-cell resolution, we profiled a mixture of
5×10
3
human (HEK293) and 5×10
3
mouse (3T3) cells using Seq-Well. The average fraction
of reads mapping to exonic regions was 77.5% (Supplementary Fig. 6), demonstrating high
quality libraries. Shallow sequencing from a fraction of an array revealed highly organism-
specific libraries, suggesting single-cell resolution and minimal cross-contamination (Fig.
1b; Supplementary Fig. 7a–c). In the absence of membrane sealing, by comparison, we
obtained poor transcript and gene detection, and substantial cross-contamination
(Supplementary Fig. 1). From deeper sequencing of a fraction of a second array, we detected
an average of 37,878 mRNA transcripts from 6,927 genes in HEK cells and 33,586 mRNA
transcripts from 6,113 genes in 3T3 cells, comparable to a droplet-based approach using the
same mRNA capture beads (Drop-Seq)
12
(Fig. 1c,d & Supplementary Fig. 7&8). Upon
matched-read downsampling, we also observed levels of transcript and gene detection
consistent with other massively-parallel bead-based scRNA-Seq methods (Methods;
Supplementary Fig. 7d–g). Moreover, we found strong correlations between bulk RNA-seq
data and populations constructed
in silico
from individual HEK cells (R=0.751±0.073–
Gierahn et al. Page 3
Nat Methods
. Author manuscript; available in PMC 2017 August 13.
Author Manuscript Author Manuscript Author Manuscript Author Manuscript

0.983±0.0001 for populations of 1–1,000 single cells, respectively), suggesting
representative cell and transcript sampling (Methods; Supplementary Fig. 9).
Next, to examine the ability of Seq-Well to resolve populations of cells in complex primary
samples, we loaded human peripheral blood mononuclear cells (PBMCs) into arrays in
triplicate prior to beads, allowing us to perform on-array multi-color imaging cytometry
(Methods; Fig. 2a,b, Supplementary Tables 2&3). Sequencing one-third of the beads
recovered from each array yielded 3,694 high-quality single-cell libraries (Methods).
Unsupervised graph-based clustering revealed unique subpopulations corresponding to
major PBMC cell types (Methods; Fig. 2b, Supplementary Fig. 10–12; Supplementary
Table 4). Each array yielded similar subpopulation frequencies (Fig. 2c), with detection
efficiencies comparable to other massively-parallel technologies (Supplementary Fig. 13).
The proportion of each subpopulation determined by sequencing also matched on-array
immunophenotyping results (Fig. 2a,b). Critically, sequencing provides additional
information: in addition to resolving dendritic cells from monocytes (Fig. 2b), we found
significant variation among the monocytes (captured in PC3) due to differential expression
of inflammatory and anti-viral gene programs (Fig. 2d)
1,3
. Overall, characterizing a sample
in two ways using a single platform increases the amount of the information that can be
extracted from a precious specimen, while also allowing analysis of one measurement in
light of the other.
Finally, to test the portability of Seq-Well, we profiled primary human macrophages exposed
to
M. tuberculosis
(H37Rv) in a BSL3 facility (Methods). In total, we recovered 14,218 (of
40,000 possible) macrophages with greater than 1,000 mapped transcripts from a TB-
exposed and an unexposed array. Unsupervised analysis of 4,638 cells with greater than
5,000 transcripts per cell revealed five distinct clusters (Fig. 3a,b & Supplementary Fig.
14a,b; Supplementary Table 5). Two had lower transcript capture and high mitochondrial
gene expression (suggestive of low quality libraries)
17
, and were removed; the remaining
three (2,560 cells) were identified in both the exposed and unexposed samples (Fig. 3a,
Supplementary Fig. 14c,d&15), and likely represent distinct sub-phenotypes present in the
initial culture.
We next examined common and cluster-specific gene enrichments (Methods). Although
Clusters 1 and 3 did not present strong stimulation-independent enrichments, Cluster 2
uniquely expressed several genes associated with metabolism (Supplementary Tables 6&7).
Intriguingly, within each cluster, we observed pronounced shifts in gene expression in
response to
M. tuberculosis
(Methods; Fig. 3c & Supplementary Table 8), with common
enrichments for gene sets previously observed in response to intracellular infection, LPS
stimulation, and activation of TLR7/8 (Supplementary Tables 9&10). Cluster 1 uniquely
displayed stimulation-induced shifts in several genes associated with cell growth, Cluster 3
in transcripts associated with hypoxia, and Cluster 2, again, in genes linked to metabolism.
Overall, these data suggest that basal cellular heterogeneity may influence ensemble
tuberculosis responses. Equally importantly, they demonstrate the ability of Seq-Well to
acquire large numbers of single-cell transcriptomes in challenging experimental
environments.
Gierahn et al. Page 4
Nat Methods
. Author manuscript; available in PMC 2017 August 13.
Author Manuscript Author Manuscript Author Manuscript Author Manuscript

Citations
More filters
Journal ArticleDOI
Carly G. K. Ziegler, Samuel J. Allon, Sarah K. Nyquist, Ian M. Mbano1, Vincent N. Miao, Constantine N. Tzouanas, Yuming Cao2, Ashraf S. Yousif3, Julia Bals3, Blake M. Hauser4, Blake M. Hauser3, Jared Feldman3, Jared Feldman4, Christoph Muus5, Christoph Muus4, Marc H. Wadsworth, Samuel W. Kazer, Travis K. Hughes, Benjamin Doran, G. James Gatter3, G. James Gatter6, G. James Gatter5, Marko Vukovic, Faith Taliaferro5, Faith Taliaferro7, Benjamin E. Mead, Zhiru Guo2, Jennifer P. Wang2, Delphine Gras8, Magali Plaisant9, Meshal Ansari, Ilias Angelidis, Heiko Adler, Jennifer M.S. Sucre10, Chase J. Taylor10, Brian M. Lin4, Avinash Waghray4, Vanessa Mitsialis11, Vanessa Mitsialis7, Daniel F. Dwyer11, Kathleen M. Buchheit11, Joshua A. Boyce11, Nora A. Barrett11, Tanya M. Laidlaw11, Shaina L. Carroll12, Lucrezia Colonna13, Victor Tkachev4, Victor Tkachev7, Christopher W. Peterson13, Christopher W. Peterson14, Alison Yu7, Alison Yu15, Hengqi Betty Zheng15, Hengqi Betty Zheng13, Hannah P. Gideon16, Caylin G. Winchell16, Philana Ling Lin16, Philana Ling Lin7, Colin D. Bingle17, Scott B. Snapper11, Scott B. Snapper7, Jonathan A. Kropski18, Jonathan A. Kropski10, Fabian J. Theis, Herbert B. Schiller, Laure-Emmanuelle Zaragosi9, Pascal Barbry9, Alasdair Leslie19, Alasdair Leslie1, Hans-Peter Kiem14, Hans-Peter Kiem13, JoAnne L. Flynn16, Sarah M. Fortune3, Sarah M. Fortune5, Sarah M. Fortune4, Bonnie Berger6, Robert W. Finberg2, Leslie S. Kean7, Leslie S. Kean4, Manuel Garber2, Aaron G. Schmidt4, Aaron G. Schmidt3, Daniel Lingwood3, Alex K. Shalek, Jose Ordovas-Montanes, Nicholas E. Banovich, Alvis Brazma, Tushar J. Desai, Thu Elizabeth Duong, Oliver Eickelberg, Christine S. Falk, Michael Farzan20, Ian A. Glass, Muzlifah Haniffa, Peter Horvath, Deborah T. Hung, Naftali Kaminski, Mark A. Krasnow, Malte Kühnemund, Robert Lafyatis, Haeock Lee, Sylvie Leroy, Sten Linnarson, Joakim Lundeberg, Kerstin B. Meyer, Alexander V. Misharin, Martijn C. Nawijn, Marko Nikolic, Dana Pe'er, Joseph E. Powell, Stephen R. Quake, Jay Rajagopal, Purushothama Rao Tata, Emma L. Rawlins, Aviv Regev, Paul A. Reyfman, Mauricio Rojas, Orit Rosen, Kourosh Saeb-Parsy, Christos Samakovlis, Herbert B. Schiller, Joachim L. Schultze, Max A. Seibold, Douglas P. Shepherd, Jason R. Spence, Avrum Spira, Xin Sun, Sarah A. Teichmann, Fabian J. Theis, Alexander M. Tsankov, Maarten van den Berge, Michael von Papen, Jeffrey A. Whitsett, Ramnik J. Xavier, Yan Xu, Kun Zhang 
28 May 2020-Cell
TL;DR: The data suggest that SARS-CoV-2 could exploit species-specific interferon-driven upregulation of ACE2, a tissue-protective mediator during lung injury, to enhance infection.

1,911 citations

Journal ArticleDOI
TL;DR: In this article, a method called cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq) is proposed, in which oligonucleotide-labeled antibodies are used to integrate cellular protein and transcriptome measurements into an efficient, single-cell readout.
Abstract: High-throughput single-cell RNA sequencing has transformed our understanding of complex cell populations, but it does not provide phenotypic information such as cell-surface protein levels. Here, we describe cellular indexing of transcriptomes and epitopes by sequencing (CITE-seq), a method in which oligonucleotide-labeled antibodies are used to integrate cellular protein and transcriptome measurements into an efficient, single-cell readout. CITE-seq is compatible with existing single-cell sequencing approaches and scales readily with throughput increases.

1,904 citations

Journal ArticleDOI
TL;DR: This work presents a strategy for batch correction based on the detection of mutual nearest neighbors (MNNs) in the high-dimensional expression space and demonstrates the superiority of this approach compared with existing methods by using both simulated and real scRNA-seq data sets.
Abstract: Large-scale single-cell RNA sequencing (scRNA-seq) data sets that are produced in different laboratories and at different times contain batch effects that may compromise the integration and interpretation of the data. Existing scRNA-seq analysis methods incorrectly assume that the composition of cell populations is either known or identical across batches. We present a strategy for batch correction based on the detection of mutual nearest neighbors (MNNs) in the high-dimensional expression space. Our approach does not rely on predefined or equal population compositions across batches; instead, it requires only that a subset of the population be shared between batches. We demonstrate the superiority of our approach compared with existing methods by using both simulated and real scRNA-seq data sets. Using multiple droplet-based scRNA-seq data sets, we demonstrate that our MNN batch-effect-correction method can be scaled to large numbers of cells.

1,423 citations


Cites background from "Seq-Well: portable, low-cost RNA se..."

  • ...The decreasing cost of single-cell RNA sequencing experiments [1] [2] [3] [4] has encouraged the establishment of large-scale projects such as the Human Cell Atlas, which profile the transcriptomes of thousands to millions of cells....

    [...]

Journal ArticleDOI
22 Feb 2018-Cell
TL;DR: This study developed Microwell-seq, a high-throughput and low-cost scRNA-seq platform using simple, inexpensive devices, and built a web-based "single-cell MCA analysis" pipeline that accurately defines cell types based on single-cell digital expression.

1,234 citations

Journal ArticleDOI
TL;DR: Single-cell transcriptomic analysis identifies changes in peripheral immune cells in seven hospitalized patients with COVID-19, including HLA class II downregulation, a heterogeneous interferon-stimulated gene signature and low pro-inflammatory cytokine gene expression in monocytes and lymphocytes.
Abstract: There is an urgent need to better understand the pathophysiology of Coronavirus disease 2019 (COVID-19), the global pandemic caused by SARS-CoV-2, which has infected more than three million people worldwide1. Approximately 20% of patients with COVID-19 develop severe disease and 5% of patients require intensive care2. Severe disease has been associated with changes in peripheral immune activity, including increased levels of pro-inflammatory cytokines3,4 that may be produced by a subset of inflammatory monocytes5,6, lymphopenia7,8 and T cell exhaustion9,10. To elucidate pathways in peripheral immune cells that might lead to immunopathology or protective immunity in severe COVID-19, we applied single-cell RNA sequencing (scRNA-seq) to profile peripheral blood mononuclear cells (PBMCs) from seven patients hospitalized for COVID-19, four of whom had acute respiratory distress syndrome, and six healthy controls. We identify reconfiguration of peripheral immune cell phenotype in COVID-19, including a heterogeneous interferon-stimulated gene signature, HLA class II downregulation and a developing neutrophil population that appears closely related to plasmablasts appearing in patients with acute respiratory failure requiring mechanical ventilation. Importantly, we found that peripheral monocytes and lymphocytes do not express substantial amounts of pro-inflammatory cytokines. Collectively, we provide a cell atlas of the peripheral immune response to severe COVID-19.

1,157 citations

References
More filters
Journal ArticleDOI
21 May 2015-Cell
TL;DR: Drop-seq will accelerate biological discovery by enabling routine transcriptional profiling at single-cell resolution by separating them into nanoliter-sized aqueous droplets, associating a different barcode with each cell's RNAs, and sequencing them all together.

5,506 citations

Journal ArticleDOI
TL;DR: Seurat is a computational strategy to infer cellular localization by integrating single-cell RNA-seq data with in situ RNA patterns, and correctly localizes rare subpopulations, accurately mapping both spatially restricted and scattered groups.
Abstract: Spatial localization is a key determinant of cellular fate and behavior, but methods for spatially resolved, transcriptome-wide gene expression profiling across complex tissues are lacking. RNA staining methods assay only a small number of transcripts, whereas single-cell RNA-seq, which measures global gene expression, separates cells from their native spatial context. Here we present Seurat, a computational strategy to infer cellular localization by integrating single-cell RNA-seq data with in situ RNA patterns. We applied Seurat to spatially map 851 single cells from dissociated zebrafish (Danio rerio) embryos and generated a transcriptome-wide map of spatial patterning. We confirmed Seurat's accuracy using several experimental approaches, then used the strategy to identify a set of archetypal expression patterns and spatial markers. Seurat correctly localizes rare subpopulations, accurately mapping both spatially restricted and scattered groups. Seurat will be applicable to mapping cellular localization within complex patterned tissues in diverse systems.

3,465 citations

01 May 2015
TL;DR: Drop-seq as discussed by the authors analyzes mRNA transcripts from thousands of individual cells simultaneously while remembering transcripts' cell of origin, and identifies 39 transcriptionally distinct cell populations, creating a molecular atlas of gene expression for known retinal cell classes and novel candidate cell subtypes.
Abstract: Cells, the basic units of biological structure and function, vary broadly in type and state. Single-cell genomics can characterize cell identity and function, but limitations of ease and scale have prevented its broad application. Here we describe Drop-seq, a strategy for quickly profiling thousands of individual cells by separating them into nanoliter-sized aqueous droplets, associating a different barcode with each cell's RNAs, and sequencing them all together. Drop-seq analyzes mRNA transcripts from thousands of individual cells simultaneously while remembering transcripts' cell of origin. We analyzed transcriptomes from 44,808 mouse retinal cells and identified 39 transcriptionally distinct cell populations, creating a molecular atlas of gene expression for known retinal cell classes and novel candidate cell subtypes. Drop-seq will accelerate biological discovery by enabling routine transcriptional profiling at single-cell resolution. VIDEO ABSTRACT.

3,365 citations

Journal ArticleDOI
08 Apr 2016-Science
TL;DR: The cellular ecosystem of tumors is begin to unravel and how single-cell genomics offers insights with implications for both targeted and immune therapies is unraveled.
Abstract: To explore the distinct genotypic and phenotypic states of melanoma tumors, we applied single-cell RNA sequencing (RNA-seq) to 4645 single cells isolated from 19 patients, profiling malignant, immune, stromal, and endothelial cells. Malignant cells within the same tumor displayed transcriptional heterogeneity associated with the cell cycle, spatial context, and a drug-resistance program. In particular, all tumors harbored malignant cells from two distinct transcriptional cell states, such that tumors characterized by high levels of the MITF transcription factor also contained cells with low MITF and elevated levels of the AXL kinase. Single-cell analyses suggested distinct tumor microenvironmental patterns, including cell-to-cell interactions. Analysis of tumor-infiltrating T cells revealed exhaustion programs, their connection to T cell activation and clonal expansion, and their variability across patients. Overall, we begin to unravel the cellular ecosystem of tumors and how single-cell genomics offers insights with implications for both targeted and immune therapies.

3,061 citations

Journal ArticleDOI
21 May 2015-Cell
TL;DR: This work has developed a high-throughput droplet-microfluidic approach for barcoding the RNA from thousands of individual cells for subsequent analysis by next-generation sequencing, which shows a surprisingly low noise profile and is readily adaptable to other sequencing-based assays.

2,894 citations

Related Papers (5)