Results 271 to 280 of about 9,740,536 (302)

Finding copy-number variants

Nature Methods, 2008
Several studies evaluate high-density single-nucleotide polymorphism (SNP) arrays for the detection of copy-number variations in human genomes.
openaire   +1 more source

Analysis of copy number variants in the cattle genome

Gene, 2011
Copy number variation (CNV) is likely to be an important component of heritable variation in livestock. To characterise CNVs in cattle, we performed a genome wide survey to determine the number, location and gene content of these genomic features. A tiling oligonucleotide array with ~385,000 probes was used for comparative genomic hybridisation of both
Kijas, James W., Barendse, William, Barris, Wes, Harrison, Blair, McCulloch, Russell, McWilliam, Sean, Whan, Vicki   +6 more
openaire   +4 more sources

Versatile Identification of Copy Number Variants with Canvas

2018
Versatile and efficient variant calling tools are needed to analyze large-scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variation in coverage data and dependence on genome-wide sample properties, such as tumor polyploidy ...
Sergii, Ivakhno, Eric, Roller
openaire   +2 more sources

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants

Molecular Genetics & Genomic Medicine, 2023
Yi-Yun Tai, Han-Ying Chen, Shin-Yu Lin
exaly  

Identification of copy number variants by NGS-based NIPT at low sequencing depth

European Journal of Obstetrics, Gynecology and Reproductive Biology, 2021
Dunjin Chen, Jiayan Wang
exaly  

Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies

American Journal of Obstetrics & Gynecology MFM, 2023
Lena Sagi-Dain, Idit Maya, Cochava Klein
exaly  

Copy number variant caller

2021
HAAS KEVIN R, WANG XIN, GRAUMAN PETER V
openaire   +2 more sources

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

American Journal of Psychiatry, 2021
Sébastien Jacquemont, Louise Gallagher, Jeremy Hall   +2 more
exaly  

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Forensic Science International: Genetics, 2020
Oscar Campuzano, Alexandra Pérez-Serra
exaly  

Copy number variants in schizophrenia

Pharmacopsychiatry, 2011
I Giegling, AM Hartmann, H Konnerth, B Konte, M Friedl, HJ Möller, D Rujescu   +6 more
openaire   +1 more source