RT Journal
A1 Pellegrino, Maurizio
A1 Sciambi, Adam
A1 Treusch, Sebastian
A1 Durruthy-Durruthy, Robert
A1 Gokhale, Kaustubh
A1 Jacob, Jose
A1 Chen, Tina X.
A1 Geis, Jennifer A.
A1 Oldham, William
A1 Matthews, Jairo
A1 Kantarjian, Hagop
A1 Futreal, P. Andrew
A1 Patel, Keyur
A1 Jones, Keith W.
A1 Takahashi, Koichi
A1 Eastburn, Dennis J.
T1 High-throughput single-cell DNA sequencing of acute myeloid leukemia tumors with droplet microfluidics
JF Genome Research 
JO Genome Research 
YR 2018 
FD September 01 
VO 28 
IS 9 
SP 1345 
OP 1352 
DO 10.1101/gr.232272.117 
UL http://genome.cshlp.org/content/28/9/1345.abstract 
AB To enable the characterization of genetic heterogeneity in tumor cell populations, we developed a novel microfluidic approach that barcodes amplified genomic DNA from thousands of individual cancer cells confined to droplets. The barcodes are then used to reassemble the genetic profiles of cells from next-generation sequencing data. By using this approach, we sequenced longitudinally collected acute myeloid leukemia (AML) tumor populations from two patients and genotyped up to 62 disease relevant loci across more than 16,000 individual cells. Targeted single-cell sequencing was able to sensitively identify cells harboring pathogenic mutations during complete remission and uncovered complex clonal evolution within AML tumors that was not observable with bulk sequencing. We anticipate that this approach will make feasible the routine analysis of AML heterogeneity, leading to improved stratification and therapy selection for the disease.