Somatic mosaicism in the human genome

D Freed, EL Stevens, J Pevsner - Genes, 2014 - mdpi.com
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …

Somatic mosaicism: implications for disease and transmission genetics

IM Campbell, CA Shaw, P Stankiewicz, JR Lupski - Trends in Genetics, 2015 - cell.com
Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …

A genomic view of mosaicism and human disease

LG Biesecker, NB Spinner - Nature Reviews Genetics, 2013 - nature.com
Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide
polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …

Mosaicism and clinical genetics

NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
With the introduction of increasingly sensitive technologies for mutation detection such as
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …

Somatic mosaicism in healthy human tissues

S De - Trends in Genetics, 2011 - cell.com
From the fertilization of an egg until the death of an individual, somatic cells can accumulate
genetic changes, such that cells from different tissues or even within the same tissue differ …

Mosaicism in human health and disease

J Thorpe, IA Osei-Owusu, BE Avigdor… - Annual review of …, 2020 - annualreviews.org
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …

De novo mutations, genetic mosaicism and human disease

M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

Extensive hidden genomic mosaicism revealed in normal tissue

S Vattathil, P Scheet - The American Journal of Human Genetics, 2016 - cell.com
Genomic mosaicism arising from post-zygotic mutation has recently been demonstrated to
occur in normal tissue of individuals ascertained with varied phenotypes, indicating that …

Detecting somatic mosaicism: considerations and clinical implications

ASA Cohen, SL Wilson, J Trinh, XC Ye - Clinical genetics, 2015 - Wiley Online Library
Human disease is rarely a matter of all or nothing; variable expressivity is generally
observed. Part of this variability is explained by somatic mosaicism, which can arise by a …

Mechanisms and consequences of somatic mosaicism in humans

H Youssoufian, RE Pyeritz - Nature Reviews Genetics, 2002 - nature.com
Somatic mosaicism—the presence of genetically distinct populations of somatic cells in a
given organism—is frequently masked, but it can also result in major phenotypic changes …