Results 41 to 50 of about 253,893 (144)

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits

BMC Genomics, 2012
Background Copy number variation (CNV) is a major source of structural variants and has been commonly identified in mammalian genome. It is associated with gene expression and may present a major genetic component of phenotypic diversity.
Chen Congying, Qiao Ruimin, Wei Rongxing, Guo Yuanmei, Ai Huashui, Ma Junwu, Ren Jun, Huang Lusheng   +7 more
doaj   +1 more source

Rare copy number variation in the GR@ACE/DEGESCO dementia dataset of spanish population [PDF]

, 2023
Itziar de Rojas, Guillermo García‐Ribas, Pascual Sánchez‐Juan, Jordi Pérez‐Tur, Pau Pástor, María J. Bullido, Victoria Álvarez, Luís Miguel Real, Pablo Mir, Gerard Piñol‐Ripoll, Jose María García‐Alberca, Miguel Medina, María Eugenia Sáez, Ángel Carracedo, Lluís Tárraga, Merçé Boada, Sven J Van Der Lee, Agustı́n Ruiz, GR@ACE/DEGESCO   +18 more
openalex   +1 more source

Comprehensively benchmarking applications for detecting copy number variation.

PLoS Computational Biology, 2019
MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang, Wanyu Bai, Na Yuan, Zhenglin Du   +3 more
doaj   +1 more source

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Genome Medicine, 2020
Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants ...
Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin   +3 more
doaj   +1 more source

Integrated analyses of copy number variations and gene differential expression in lung squamous-cell carcinoma

Biological Research, 2015
BACKGROUND: Although numerous efforts have been made, the pathogenesis underlying lung squamous-cell carcinoma (SCC) remains unclear. This study aimed to identify the CNV-driven genes by an integrated analysis of both the gene differential expression and
Zhao Yang, Bing Zhuan, Ying Yan, Simin Jiang, Tao Wang   +4 more
doaj   +1 more source

Gene copy number variation in natural populations of Plasmodium falciparum in Eastern Africa

BMC Genomics, 2018
Background Gene copy number variants (CNVs), which consist of deletions and amplifications of single or sets of contiguous genes, contribute to the great diversity in the Plasmodium falciparum genome.
Joan Simam, Martin Rono, Joyce Ngoi, Mary Nyonda, Sachel Mok, Kevin Marsh, Zbynek Bozdech, Margaret Mackinnon   +7 more
doaj   +1 more source

Genomic copy number variation analysis in multiple system atrophy

Molecular Brain, 2017
Genomic variation includes single-nucleotide variants, small insertions or deletions (indels), and copy number variants (CNVs). CNVs affect gene expression by altering the genome structure and transposable elements within a region.
Yuka Hama, Masataka Katsu, Ichigaku Takigawa, Ichiro Yabe, Masaaki Matsushima, Ikuko Takahashi, Takayuki Katayama, Jun Utsumi, Hidenao Sasaki   +8 more
doaj   +1 more source

Research progress in copy number variation in ovarian cancer [PDF]

Xin yixue
Genetic variation is one of the important factors leading to the incidence and development of cancer. Copy number variation is an important source of genetic diversity， which can be expressed as gene amplification or deletion in structure， and is related
SUN Mengna, XU Ying, REN Chenlu, YAN Yufan, CHEN Zhihao, YANG Hong
doaj   +1 more source

Supplementary Material for: Copy Number Variation Analysis increases the number of Candidate Loci associated with Pediatric Obesity

, 2021
Madeo S.F., Ilaria Stanghellini, Barbara Predieri, S. Ciancia, Leo F., Patrizia Bruzzi, Olga Calabrese, Lorenzo Iughetti   +7 more
openalex   +1 more source

Editorial: Copy Number Variation in Rare Disorders

Frontiers in Genetics, 2022
Katalin Komlósi, Attila Gyenesei, Judit Bene   +2 more
doaj   +1 more source