Multiplexed droplet single-cell RNA-sequencing using natural genetic variation

HM Kang, M Subramaniam, S Targ, M Nguyen… - Nature …, 2018 - nature.com
HM Kang, M Subramaniam, S Targ, M Nguyen, L Maliskova, E McCarthy, E Wan, S Wong…
Nature biotechnology, 2018nature.com
Droplet single-cell RNA-sequencing (dscRNA-seq) has enabled rapid, massively parallel
profiling of transcriptomes. However, assessing differential expression across multiple
individuals has been hampered by inefficient sample processing and technical batch effects.
Here we describe a computational tool, demuxlet, that harnesses natural genetic variation to
determine the sample identity of each droplet containing a single cell (singlet) and detect
droplets containing two cells (doublets). These capabilities enable multiplexed dscRNA-seq …
Abstract
Droplet single-cell RNA-sequencing (dscRNA-seq) has enabled rapid, massively parallel profiling of transcriptomes. However, assessing differential expression across multiple individuals has been hampered by inefficient sample processing and technical batch effects. Here we describe a computational tool, demuxlet, that harnesses natural genetic variation to determine the sample identity of each droplet containing a single cell (singlet) and detect droplets containing two cells (doublets). These capabilities enable multiplexed dscRNA-seq experiments in which cells from unrelated individuals are pooled and captured at higher throughput than in standard workflows. Using simulated data, we show that 50 single-nucleotide polymorphisms (SNPs) per cell are sufficient to assign 97% of singlets and identify 92% of doublets in pools of up to 64 individuals. Given genotyping data for each of eight pooled samples, demuxlet correctly recovers the sample identity of >99% of singlets and identifies doublets at rates consistent with previous estimates. We apply demuxlet to assess cell-type-specific changes in gene expression in 8 pooled lupus patient samples treated with interferon (IFN)-β and perform eQTL analysis on 23 pooled samples.
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