2-AIN-506 a 2-AIN-252: Seminár z bioinformatiky (2) a (4)
Leto 2019
Abstrakt

Mehdi Zarrei, Jeffrey R. MacDonald, Daniele Merico, Stephen W. Scherer. A copy number variation map of the human genome. Nature reviews. Genetics, 16(3):172-173. 2015.

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Abstract:

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.