@article {467,
	title = {Clinical genomics: from a truly personal genome viewpoint.},
	journal = {Hum Genet},
	volume = {135},
	year = {2016},
	month = {2016 06},
	pages = {591-601},
	abstract = {<p>The path to Clinical Genomics is punctuated by our understanding of what types of DNA structural and sequence variation contribute to disease, the many technical challenges to detect such variation genome-wide, and the initial struggles to interpret personal genome variation in the context of disease. This review describes one perspective of the development of clinical genomics; whereas the experimental challenges, and hurdles to overcoming them, might be deemed readily apparent, the non-technical issues for clinical implementation may be less obvious. Some of these latter challenges, including: (1) informed consent, (2) privacy, (3) what constitutes potentially pathogenic variation contributing to disease, (4) disease penetrance in populations, and (5) the genetic architecture of disease, and the struggles sometimes faced for solutions, are highlighted using illustrative examples.</p>},
	keywords = {Genetic Diseases, Inborn, Genetic Variation, Genome, Human, Genomics, Humans, Informed Consent, Precision Medicine, Privacy, Sequence Analysis, DNA},
	issn = {1432-1203},
	doi = {10.1007/s00439-016-1682-6},
	author = {Lupski, James R}
}
@article {331,
	title = {Clan genomics and the complex architecture of human disease.},
	journal = {Cell},
	volume = {147},
	year = {2011},
	month = {2011 Sep 30},
	pages = {32-43},
	abstract = {<p>Human diseases are caused by alleles that encompass the full range of variant types, from single-nucleotide changes to copy-number variants, and these variations span a broad frequency spectrum, from the very rare to the common. The picture emerging from analysis of whole-genome sequences, the 1000 Genomes Project pilot studies, and targeted genomic sequencing derived from very large sample sizes reveals an abundance of rare and private variants. One implication of this realization is that recent mutation may have a greater influence on disease susceptibility or protection than is conferred by variations that arose in distant ancestors.</p>},
	keywords = {Genetic Predisposition to Disease, Genetic Variation, Genetics, Population, Genome, Human, Genomics, Humans, Pedigree, Pilot Projects, Precision Medicine},
	issn = {1097-4172},
	doi = {10.1016/j.cell.2011.09.008},
	author = {Lupski, James R and Belmont, John W and Boerwinkle, Eric and Gibbs, Richard A}
}
