@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 {301,
	title = {Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.},
	journal = {Genome Res},
	volume = {23},
	year = {2013},
	month = {2013 Sep},
	pages = {1383-94},
	abstract = {<p>Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic setting to identify deletions encompassing or disrupting recessive disease genes. We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes. Deletion frequency of these genes ranged from one occurrence to 1.5\%. When compared with recessive disease genes never deleted in our cohort, the 419 recessive disease genes affected by at least one carrier deletion were longer and located farther from known dominant disease genes, suggesting that the formation and/or prevalence of carrier CNVs may be affected by both local and adjacent genomic features and by selection. Some subjects had multiple carrier CNVs (307 subjects) and/or carrier deletions encompassing more than one recessive disease gene (206 deletions). Heterozygous deletions spanning multiple recessive disease genes may confer carrier status for multiple single-gene disorders, for complex syndromes resulting from the combination of two or more recessive conditions, or may potentially cause clinical phenotypes due to a multiply heterozygous state. In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease. We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations. Thus, a complete recessive carrier screening method or diagnostic test should detect CNV alleles. </p>},
	keywords = {Alleles, Comparative Genomic Hybridization, Databases, Genetic, DNA Copy Number Variations, Gene Deletion, Gene Frequency, Genes, Dominant, Genes, Recessive, Genetic Diseases, Inborn, Homozygote, Humans},
	issn = {1549-5469},
	doi = {10.1101/gr.156075.113},
	author = {Boone, Philip M and Campbell, Ian M and Baggett, Brett C and Soens, Zachry T and Rao, Mitchell M and Hixson, Patricia M and Patel, Ankita and Bi, Weimin and Cheung, Sau Wai and Lalani, Seema R and Beaudet, Arthur L and Stankiewicz, Pawel and Shaw, Chad A and Lupski, James R}
}
