Eleven grand challenges in single-cell data science

D Lähnemann, J Köster, E Szczurek, DJ McCarthy… - Genome biology, 2020 - Springer
The recent boom in microfluidics and combinatorial indexing strategies, combined with low
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …

Single-cell sequencing techniques from individual to multiomics analyses

Y Kashima, Y Sakamoto, K Kaneko, M Seki… - … & Molecular Medicine, 2020 - nature.com
Here, we review single-cell sequencing techniques for individual and multiomics profiling in
single cells. We mainly describe single-cell genomic, epigenomic, and transcriptomic …

Somatic genomic changes in single Alzheimer's disease neurons

MB Miller, AY Huang, J Kim, Z Zhou, SL Kirkham… - Nature, 2022 - nature.com
Dementia in Alzheimer's disease progresses alongside neurodegeneration,,–, but the
specific events that cause neuronal dysfunction and death remain poorly understood. During …

Mechanisms and therapeutic implications of hypermutation in gliomas

M Touat, YY Li, AN Boynton, LF Spurr, JB Iorgulescu… - Nature, 2020 - nature.com
A high tumour mutational burden (hypermutation) is observed in some gliomas,,,–; however,
the mechanisms by which hypermutation develops and whether it predicts the response to …

Aging and neurodegeneration are associated with increased mutations in single human neurons

MA Lodato, RE Rodin, CL Bohrson, ME Coulter… - Science, 2018 - science.org
It has long been hypothesized that aging and neurodegeneration are associated with
somatic mutation in neurons; however, methodological hurdles have prevented testing this …

Massively parallel single-cell mitochondrial DNA genoty** and chromatin profiling

CA Lareau, LS Ludwig, C Muus, SH Gohil, T Zhao… - Nature …, 2021 - nature.com
Natural mitochondrial DNA (mtDNA) mutations enable the inference of clonal relationships
among cells. mtDNA can be profiled along with measures of cell state, but has not yet been …

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

LJ Luquette, MB Miller, Z Zhou, CL Bohrson, Y Zhao… - Nature …, 2022 - nature.com
Accurate somatic mutation detection from single-cell DNA sequencing is challenging due to
amplification-related artifacts. To reduce this artifact burden, an improved amplification …

High-throughput single-сell sequencing in cancer research

Q Jia, H Chu, Z **, H Long, B Zhu - Signal Transduction and Targeted …, 2022 - nature.com
With advances in sequencing and instrument technology, bioinformatics analysis is being
applied to batches of massive cells at single-cell resolution. High-throughput single-cell …

Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders

S Bizzotto, CA Walsh - Nature Reviews Neuroscience, 2022 - nature.com
Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

Computational immunogenomic approaches to predict response to cancer immunotherapies

V Addala, F Newell, JV Pearson, A Redwood… - Nature Reviews …, 2024 - nature.com
Cancer immunogenomics is an emerging field that bridges genomics and immunology. The
establishment of large-scale genomic collaborative efforts along with the development of …