Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans
نویسندگان
چکیده
منابع مشابه
Detection of germline and somatic copy number variations in cattle.
As a complement to the Bovine HapMap Consortium project, we initiated a systematic study of the copy numbervariation (CNV) within the same cattle population using array comparative genomic hybridization (array CGH). Oligonucleotide CGH arrays were designed and fabricated to cover all chromosomes with an average interval of 6 kb using the latest bovine genome assembly. In the initial screening, ...
متن کاملPopulation-genetic properties of differentiated copy number variations in cattle.
While single nucleotide polymorphism (SNP) is typically the variant of choice for population genetics, copy number variation (CNV) which comprises insertion, deletion and duplication of genomic sequence, is an informative type of genetic variation. CNVs have been shown to be both common in mammals and important for understanding the relationship between genotype and phenotype. However, CNV diff...
متن کاملRelative Copy Number Variations of CYP2C19 in South Indian Population
CYP2C19 is a polymorphic enzyme involved in the metabolism of clinically important drugs. Genotype-phenotype association studies of CYP2C19 have reported wide ranges in the metabolic ratios of its substrates. These discrepancies could be attributed to the variations in the promoter region and this aspect has been reported recently. The observations in the recent reports on the influence of prom...
متن کاملAB201. Whole-exome sequencing characterizes the landscape of somatic mutations and copy number variations in testicular germ cell tumor
Objective: Testicular germ cell tumor (TGCT) is the most common malignancy among young men. We conduct this study in order to further understand the genetic determinants of TGCT. Methods: A total of 18 TGCTs and matched normal controls were obtained from individuals newly diagnosed with TGCT in the hospital. Genomic DNAs were extracted from these samples and whole-exome sequencing was conducted...
متن کاملA General Graphical Framework for Detecting Copy Number Variations
Array comparative genomic hybridization (aCGH) allows identification of copy number alterations across genomes. The key computational challenge in analyzing copy number variations (CNVs) using aCGH data or other similar data generated by a variety of array technologies is the detection of segment boundaries of copy number changes and inference of the copy number state for each segment. We have ...
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ژورنال
عنوان ژورنال: Heredity
سال: 2013
ISSN: 0018-067X,1365-2540
DOI: 10.1038/hdy.2013.59