Results 21 to 30 of about 502,320 (296)

A genome-wide copy number variant study of suicidal behavior. [PDF]

PLoS ONE, 2015
Suicide and suicide attempts are complex behaviors that result from the interaction of different factors, including genetic variants that increase the predisposition to suicidal behaviors.
Jeffrey A Gross, Alexandre Bureau, Jordie Croteau, Hanga Galfalvy, Maria A Oquendo, Fatemeh Haghighi, Chantal Mérette, Ina Giegling, Colin Hodgkinson, David Goldman, Dan Rujescu, J John Mann, Gustavo Turecki   +12 more
doaj   +1 more source

Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings

Frontiers in Genetics, 2023
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single ...
Nadja Louw, Nadia Carstens, Nadia Carstens, Zané Lombard, for DDD-Africa as members of the H3Africa Consortium   +4 more
doaj   +1 more source

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication

BMC Genomics, 2020
Background Advances in genome technology have simplified a new comprehension of the genetic and historical processes crucial to rapid phenotypic evolution under domestication. To get new insight into the genetic basis of the dog domestication process, we
Zeinab Amiri Ghanatsaman, Guo-Dong Wang, Hojjat Asadollahpour Nanaei, Masood Asadi Fozi, Min-Sheng Peng, Ali Esmailizadeh, Ya-Ping Zhang   +6 more
doaj   +1 more source

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity

Frontiers in Genetics, 2021
Detection of CNVs (copy number variants) and ROH (runs of homozygosity) from SNP (single nucleotide polymorphism) genotyping data is often required in genomic studies.
Jinghang Zhou, Jinghang Zhou, Liyuan Liu, Liyuan Liu, Thomas J. Lopdell, Dorian J. Garrick, Yuangang Shi   +6 more
doaj   +1 more source

Bias of Selection on Human Copy-Number Variants [PDF]

PLoS Genetics, 2005
Although large-scale copy-number variation is an important contributor to conspecific genomic diversity, whether these variants frequently contribute to human phenotype differences remains unknown. If they have few functional consequences, then copy-number variants (CNVs) might be expected both to be distributed uniformly throughout the human genome ...
Nguyen, D, Webber, C, Ponting, C
openaire   +5 more sources

Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.

PLoS Computational Biology, 2020
Copy number variants (CNVs) are the gain or loss of DNA segments in the genome that can vary in dosage and length. CNVs comprise a large proportion of variation in human genomes and impact health conditions.
Amanda Brucker, Wenbin Lu, Rachel Marceau West, Qi-You Yu, Chuhsing Kate Hsiao, Tzu-Hung Hsiao, Ching-Heng Lin, Patrik K E Magnusson, Patrick F Sullivan, Jin P Szatkiewicz, Tzu-Pin Lu, Jung-Ying Tzeng   +11 more
doaj   +1 more source

Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization [PDF]

, 2013
BACKGROUND: Copy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number ...
Chungang Feng, Ming Tian, Ning Li, Suyun Fang, Xiaorong Gu, Xiaoxiang Hu, Yanqiang Wang   +6 more
core   +1 more source

A Review of Copy Number Variants in Inherited Neuropathies [PDF]

Current Genomics, 2018
The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important ...
Salpietro V., Manole A., Efthymiou S., Houlden H.   +3 more
openaire   +4 more sources

Assessment of circulating copy number variant detection for cancer screening. [PDF]

PLoS ONE, 2017
Current high-sensitivity cancer screening methods, largely utilizing correlative biomarkers, suffer from false positive rates that lead to unnecessary medical procedures and debatable public health benefit overall.
Bhuvan Molparia, Eshaan Nichani, Ali Torkamani   +2 more
doaj   +1 more source

Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +1 more source