Results 21 to 30 of about 162,786 (255)
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 +6 more
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease [PDF]
American Journal of Human GeneticsGabrielle Lemire +2 more
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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 +11 more
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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
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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. +3 more
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Copy Number Variants in Alzheimer’s Disease
Journal of Alzheimer's Disease, 2016 Alzheimer’s disease (AD) is a devastating disease mainly afflicting elderly people, characterized by decreased cognition, loss of memory, and eventually death. Although risk and deterministic genes are known, major genetics research programs are underway to gain further insights into the inheritance of AD.
Cuccaro Denis +3 more
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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 +2 more
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Genomic variability in Mexican chicken population using copy number variants
BMC Genetics, 2017 Background Copy number variations are genome polymorphism that influence phenotypic variation and are an important source of genetic variation in populations.
E. Gorla +7 more
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Association tests and software for copy number variant data
Human Genomics, 2009 Recent studies have suggested that copy number variation (CNV) significantly contributes to genetic predisposition to several common disorders. These findings, combined with the imperfect tagging of CNVs by single nucleotide polymorphisms (SNPs), have ...
Plagnol Vincent
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BMC Ophthalmology, 2021 Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
Tianwei Qian +7 more
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