A copy number variation map of the human genome
By M. Zarrei, J. MacDonald, Daniele Merico, Stephen W. Scherer. Nature reviews genetics, 2015
834 citations recorded by the source corpus.
A major contribution to the genome variability among individuals comes from deletions and duplications — collectively termed copy number variations (CNVs) — which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8–9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.
Subfields: Genetics, Plant Science
View Paper: https://www.semanticscholar.org/paper/1041ea8e25df9256cca423a729e9013ca2419c1f
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Citations in the corpus
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder (2017, positive): “We defined a rare CNV as one found less than 1% of the time in the parents, in less than 0.1% in the population from microarray data and overlapping with a region that is at least 75% copy-number-stable according to the CNV map of the human genome 68 .”
- Artificial intelligence and machine learning in precision and genomic medicine (2021, background): “Copy number variations are a difficult-to-identify subset of variants in which ML processes are implemented [199].”