@article {185,
	title = {Absence of heterozygosity due to template switching during replicative rearrangements.},
	journal = {Am J Hum Genet},
	volume = {96},
	year = {2015},
	month = {2015 Apr 02},
	pages = {555-64},
	abstract = {<p>We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational evidence that in humans, post-zygotically generated CGRs can lead to regional uniparental disomy (UPD) due to template switches between homologs versus sister chromatids by using microhomology to prime DNA replication-a prediction of the replicative repair model, MMBIR. Our findings suggest that replication-based mechanisms might underlie the formation of diverse types of genomic alterations (CGRs and AOH) implicated in constitutional disorders. </p>},
	keywords = {Base Sequence, DNA Copy Number Variations, DNA Repair, DNA Replication, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Loss of Heterozygosity, Models, Genetic, Molecular Sequence Data, Netherlands, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Uniparental Disomy},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.01.021},
	author = {Carvalho, Claudia M B and Pfundt, Rolph and King, Daniel A and Lindsay, Sarah J and Zuccherato, Luciana W and Macville, Merryn V E and Liu, Pengfei and Johnson, Diana and Stankiewicz, Pawel and Brown, Chester W and Shaw, Chad A and Hurles, Matthew E and Ira, Grzegorz and Hastings, P J and Brunner, Han G and Lupski, James R}
}
@article {169,
	title = {Somatic mosaicism: implications for disease and transmission genetics.},
	journal = {Trends Genet},
	volume = {31},
	year = {2015},
	month = {2015 Jul},
	pages = {382-92},
	abstract = {<p>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 (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. This process results in an organism composed of countless cells, each with its own unique personal genome. Thus, every human is undoubtedly mosaic. Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. We review the influence of the developmental timing of mutations, the mechanisms by which they arise, methods for detecting mosaic variants, and the risk of passing these mutations on to the next generation. </p>},
	keywords = {Animals, Genetic Diseases, Inborn, Genome, Human, Humans, Mosaicism, Mutagenesis, Insertional, Mutation, Polymorphism, Single Nucleotide, Risk, Trinucleotide Repeat Expansion},
	issn = {0168-9525},
	doi = {10.1016/j.tig.2015.03.013},
	author = {Campbell, Ian M and Shaw, Chad A and Stankiewicz, Pawel and Lupski, James R}
}
