TY - JOUR
T1 - A high-fidelity method for genomic sequencing of single somatic cells reveals a very high mutational burden
AU - Vijg, Jan
AU - Dong, Xiao
AU - Zhang, Lei
N1 - Publisher Copyright:
© 2017, © 2017 by the Society for Experimental Biology and Medicine.
PY - 2017/7/1
Y1 - 2017/7/1
N2 - Postzygotic mutations in somatic cells lead to genome mosaicism and can be the cause of cancer, possibly other human diseases and aging. Somatic mutations are difficult to detect in bulk tissue samples. Here, we review the available assays for measuring somatic mutations, with a focus on recent single-cell, whole genome sequencing methods. Impact statement: Somatic mutations cause cancer, possibly other diseases and aging. Yet, very little is known about the frequency of such mutations in vivo, their distribution across the genome, and their possible functional consequences other than cancer. Even in cancer, we do not know the heterogeneity of mutations within a tumor and if seemingly normal cells in its surroundings already have elevated mutation frequencies. Here, we review a new, whole genome amplification system that allows accurate quantification and characterization of single-cell mutational landscapes in human cells and tissues in relation to disease.
AB - Postzygotic mutations in somatic cells lead to genome mosaicism and can be the cause of cancer, possibly other human diseases and aging. Somatic mutations are difficult to detect in bulk tissue samples. Here, we review the available assays for measuring somatic mutations, with a focus on recent single-cell, whole genome sequencing methods. Impact statement: Somatic mutations cause cancer, possibly other diseases and aging. Yet, very little is known about the frequency of such mutations in vivo, their distribution across the genome, and their possible functional consequences other than cancer. Even in cancer, we do not know the heterogeneity of mutations within a tumor and if seemingly normal cells in its surroundings already have elevated mutation frequencies. Here, we review a new, whole genome amplification system that allows accurate quantification and characterization of single-cell mutational landscapes in human cells and tissues in relation to disease.
KW - Aging
KW - cancer
KW - genomic features
KW - heterogeneity
KW - somatic mutations
KW - whole genome amplification
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U2 - 10.1177/1535370217717696
DO - 10.1177/1535370217717696
M3 - Review article
C2 - 28737476
AN - SCOPUS:85026287669
SN - 1535-3702
VL - 242
SP - 1318
EP - 1324
JO - Experimental Biology and Medicine
JF - Experimental Biology and Medicine
IS - 13
ER -