Stadler et al.: "Rare De Novo Germline Copy-Number Variation in Testicular Cancer." ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS. The American Journal of Human Genetics (AJHG) is ASHG's official ...

For example, chromosome 13, which has the highest of the three examined coefficients of variation, is the most buffered from the effects of copy-number variants . Discussion ...

April 1, 2007 (Vol. 27, No. 7) High-Resolution Oligo Arrays for Research and BAC Arrays for Growing Diagnostics Sector High density, oligonucleotide-based array-Comparative Genomic Hybridization ...

Thanks to engrained lessons from cytogenetics, researchers largely regarded variations in gene copy a rarity, synonymous with defects. Increasingly, however, researchers have found that large-scale ...

With the human genome complete, one of the more prominent follow-up projects has been the cancer genome, in which researchers attempted to study the complete catalog of mutations that are present ...

Although no single sequencing approach can accurately identify all copy number variation types—and short reads don’t adequately flag copy number variations—better methods to analyze and ...

Study results demonstrate that combining copy number variation (CNV) information with cfDNA fragment size information could serve as a new avenue for early detection of colorectal cancer, with ...

Humans, for example, only had 84 genes with increased copy numbers over those of our closet relatives. In contrast, lemurs, which have evolved for 60 million years, ... We've talked about copy number ...

Large copy-number variations associated with schizophrenia are prevalent in a high-risk Finnish region for schizophrenia with an isolated founder population. X. ... For example, 10% of deletion ...