Results 21 to 30 of about 253,893 (144)

Copy number variation in livestock: A mini review [PDF]

Veterinary World, 2018
Copy number variation (CNV) is a phenomenon in which sections of the genome, ranging from one kilo base pair (Kb) to several million base pairs (Mb), are repeated and the number of repeats vary between the individuals in a population.
V. Bhanuprakash, Supriya Chhotaray, D. R. Pruthviraj, Chandrakanta Rawat, A. Karthikeyan, Manjit Panigrahi   +5 more
doaj   +1 more source

Evolutionary impact of copy number variation rates

BMC Research Notes, 2017
Objective Copy number variation is now recognized as one of the major sources of genetic variation among individuals in natural populations of any species.
Guillermo Rodrigo
doaj   +1 more source

Copy number variation in familial Parkinson disease.

PLoS ONE, 2011
Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single ...
Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories   +13 more
doaj   +1 more source

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Molecular Genetics & Genomic Medicine, 2020
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani   +12 more
doaj   +1 more source

Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer

Pathology and Oncology Research, 2022
Background: Histone deacetylase (HDAC) plays a crucial role in regulating the expression and activity of a variety of genes associated with tumor progression and immunotherapeutic processes.
Shuming Yang, Shengzhi Xie, Xinying Shi, Dan Su, Bo He, Yang Xu, Zhefeng Liu   +6 more
doaj   +1 more source

Genome wide landscaping of copy number variations for horse inter-breed variability

Animal Biotechnology
Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia ...
Nitesh Kumar Sharma, Prashant Singh, Bibek Saha, Anuradha Bhardwaj, Mir Asif Iquebal, Yash Pal, Varij Nayan, Sarika Jaiswal, Shiv Kumar Giri, Ram Avatar Legha, T. K. Bhattacharya, Dinesh Kumar, Anil Rai   +12 more
doaj   +1 more source

Noise cancellation using total variation for copy number variation detection

BMC Bioinformatics, 2018
Background Due to recent advances in sequencing technologies, sequence-based analysis has been widely applied to detecting copy number variations (CNVs).
Fatima Zare, Abdelrahman Hosny, Sheida Nabavi   +2 more
doaj   +1 more source

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing

Frontiers in Endocrinology, 2023
IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai, Qi Zhang, Zhi Lin, Jin Ye, Xiaoqi Shen, Linshuang Zhou, Wenpin Cai   +6 more
doaj   +1 more source

Family-Based Benchmarking of Copy Number Variation Detection Software. [PDF]

PLoS ONE, 2015
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases.
Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel   +6 more
doaj   +1 more source

CoNVaQ: a web tool for copy number variation-based association studies

BMC Genomics, 2018
Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto, Jan Baumbach   +3 more
doaj   +1 more source