@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}
}
@article {229,
	title = {Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.},
	journal = {Am J Hum Genet},
	volume = {95},
	year = {2014},
	month = {2014 Aug 07},
	pages = {173-82},
	abstract = {<p>New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic technologies has anecdotally revealed mosaicism for mutations in somatic tissues of apparently healthy parents. Such somatically mosaic parents might also have germline mosaicism that can potentially cause unexpected intergenerational recurrences. Here, we show that somatic mosaicism for transmitted mutations among parents of children with simplex genetic disease is more common than currently appreciated. Using the sensitivity of individual-specific breakpoint PCR, we prospectively screened 100 families with children affected by genomic disorders due to rare deletion copy-number variants (CNVs) determined to be de novo by clinical analysis of parental DNA. Surprisingly, we identified four cases of low-level somatic mosaicism for the transmitted CNV in DNA isolated from parental blood. Integrated probabilistic modeling of gametogenesis developed in response to our observations predicts that mutations in parental blood increase recurrence risk substantially more than parental mutations confined to the germline. Moreover, despite the fact that maternally transmitted mutations are the minority of alleles, our model suggests that sexual dimorphisms in gametogenesis result in a greater proportion of somatically mosaic transmitting mothers who are thus at increased risk of recurrence. Therefore, somatic mosaicism together with sexual differences in gametogenesis might explain a considerable fraction of unexpected recurrences of X-linked recessive disease. Overall, our results underscore an important role for somatic mosaicism and mitotic replicative mutational mechanisms in transmission genetics. </p>},
	keywords = {Cell Division, DNA Copy Number Variations, Female, Gametogenesis, Genetic Diseases, Inborn, Genomics, Germ Cells, Germ-Line Mutation, Humans, Male, Models, Genetic, Mosaicism, Mutation, Pedigree, Prospective Studies, Recurrence, Risk, Sex Characteristics, Smith-Magenis Syndrome},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2014.07.003},
	author = {Campbell, Ian M and Yuan, Bo and Robberecht, Caroline and Pfundt, Rolph and Szafranski, Przemyslaw and McEntagart, Meriel E and Nagamani, Sandesh C S and Erez, Ayelet and Bartnik, Magdalena and Wi{\'s}niowiecka-Kowalnik, Barbara and Plunkett, Katie S and Pursley, Amber N and Kang, Sung-Hae L and Bi, Weimin and Lalani, Seema R and Bacino, Carlos A and Vast, Mala and Marks, Karen and Patton, Michael and Olofsson, Peter and Patel, Ankita and Veltman, Joris A and Cheung, Sau Wai and Shaw, Chad A and Vissers, Lisenka E L M and Vermeesch, Joris R and Lupski, James R and Stankiewicz, Pawe{\l}}
}
@article {291,
	title = {Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.},
	journal = {JAMA},
	volume = {310},
	year = {2013},
	month = {2013 Jul 24},
	pages = {365-6},
	keywords = {Disclosure, Genetic Predisposition to Disease, Genetic Testing, Humans, Incidental Findings, Mandatory Reporting, Mutation, Personal Autonomy, Risk, Sequence Analysis, DNA},
	issn = {1538-3598},
	doi = {10.1001/jama.2013.41703},
	author = {Green, Robert C and Lupski, James R and Biesecker, Leslie G}
}
