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 …
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 …
chromosomal microarrays and next‐generation sequencing, the importance of mosaicism …
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 …
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …
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 …
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …
Somatic mosaicism: implications for disease and transmission genetics
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 …
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …
[HTML][HTML] A six-attribute classification of geneticmosaicism
Mosaicism denotes an individual who has at least two populations of cells with distinct
genotypes that are derived from a single fertilized egg. Genetic variation among the cell …
genotypes that are derived from a single fertilized egg. Genetic variation among the cell …
A pan-tissue survey of mosaic chromosomal alterations in 948 individuals
Genetic mutations accumulate in an organism's body throughout its lifetime. While somatic
single-nucleotide variants have been well characterized in the human body, the patterns …
single-nucleotide variants have been well characterized in the human body, the patterns …
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 …
given organism—is frequently masked, but it can also result in major phenotypic changes …
Unrevealed mosaicism in the next-generation sequencing era
M Gajecka - Molecular genetics and genomics, 2016 - Springer
Mosaicism refers to the presence in an individual of normal and abnormal cells that are
genotypically distinct and are derived from a single zygote. The incidence of mosaicism …
genotypically distinct and are derived from a single zygote. The incidence of mosaicism …
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome
B Rodríguez-Santiago, N Malats, N Rothman… - The American Journal of …, 2010 - cell.com
Mosaicism is defined as the coexistence of cells with different genetic composition within an
individual, caused by postzygotic somatic mutation. Although somatic mosaicism for …
individual, caused by postzygotic somatic mutation. Although somatic mosaicism for …