Buscar
Mostrando ítems 21-30 de 526
Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes
(2016-04-15)
In colorectal carcinoma (CRC), 35% of cases are known to have a hereditary component, while a lower proportion (∼5%) can be explained by known genetic factors. In this study, copy number variations (CNVs) were evaluated ...
Copy number variation of individual cattle genomes using next-generation sequencing
(Cold Spring Harbor Lab Press, Publications Dept, 2012-04-01)
Copy number variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in or near segmental duplication regions are often intractable. Using a read depth approach based on next-generation sequencing, we ...
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH)
(Elsevier B.V., 2016-03-01)
Autism spectrum disorder (ASD) has a strong genetic basis and advances in genomic scanning methods have resulted in the identification of the underlying alterations in about 30% of the cases. The overwhelming majority of ...
Copy number variants in patients with short stature
(Nature Publishing Group, 2014)
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about ...
Initial analysis of copy number variations in canchim beef cattle with extreme phenotypes for ribeye area.
(In: INTERNATIONAL PLANT & ANIMAL GENOME, 21., 2013, San Diego. [Abstracts]... [S.l.: s.n.], 2013., 2013)
Initial analysis of copy number variations in canchim beef cattle with extreme phenotypes for ribeye area.
(In: INTERNATIONAL PLANT & ANIMAL GENOME, 21., 2013, San Diego. [Abstracts]... [S.l.: s.n.], 2013., 2013)
Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases
Copy number variation (CNV) of human DNA segments is an important source of genetic diversity and increasing evidence indicates that CNV may underlie disease susceptibility.1–4 It is to be noted that there seems to be an ...