Results 31 to 40 of about 254,836 (309)

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

Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
openaire   +2 more sources

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

Decoding NF1 Intragenic Copy-Number Variations [PDF]

The American Journal of Human Genetics, 2015
Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), fork stalling and template switching (FoSTeS), and microhomology-mediated break-induced replication (MMBIR), have been proposed.
Hsiao, Meng-Chang, Piotrowski, Arkadiusz, Callens, Tom, Fu, Chuanhua, Wimmer, Katharina, Claes, Kathleen B.M., Messiaen, Ludwine   +6 more
openaire   +2 more sources

Copy Number Variation and Schizophrenia [PDF]

Schizophrenia Bulletin, 2009
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci. These are rare high-penetrant mutations that increase risk not only of schizophrenia but also of a range of other psychiatric disorders including autism and mental ...
openaire   +2 more sources

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