Results 21 to 30 of about 12,100,252 (298)

Comparison of Genomic Copy Number Variations Among Breast Cancer Subtypes

Zhongliu Fangzhi Yanjiu, 2021
Objective To compare genomic copy number variations (CNVs) among different subtypes of breast cancer and analyze specific CNVs in each subtype. Methods AIMS software was used for genotype breast cancer (BasL, Her2, LumA and LumB), and GISTIC2.0 software ...
WANG Zhihui, ZHONG Meigong, CHEN Qiuxuan, MENG Zijie, WU Wanting, ZHENG Yan, ZHANG Xin   +6 more
doaj   +1 more source

Identifying Novel Targetable Chromosomal Alterations in Ovarian Cancer: Using Germline Copy Number Variation Association Analysis

Scientific Journal of King Faisal University: Basic and Applied Sciences, 2022
The heterogeneity of ovarian cancer (Ov Ca) is attributed to multiple genetic and epigenetic changes, rendering it difficult to detect the most relevant molecular alterations.
Heba Mohammed Tawfik, Manal Ismail Abd Elghany, Mohammed Abubakr Mohammed Basalamah, Nisreen Dahi Mohamed Toni, Reda Fikry Abd El-Meguid, Rehab Kamal Mohammed, Hanan Mohamed Abd Elmoneim, Halah Tariq Albar   +7 more
doaj   +1 more source

Copy number variation in schizophrenia in Sweden [PDF]

Molecular Psychiatry, 2014
Schizophrenia is a highly heritable neuropsychiatric disorder of complex genetic etiology. Previous genome-wide surveys have revealed a greater burden of large, rare CNVs in schizophrenia cases and identified multiple rare recurrent CNVs that increase risk of schizophrenia although with incomplete penetrance and pleiotropic effects.
J P, Szatkiewicz, C, O'Dushlaine, G, Chen, K, Chambert, J L, Moran, B M, Neale, M, Fromer, D, Ruderfer, S, Akterin, S E, Bergen, A, Kähler, P K E, Magnusson, Y, Kim, J J, Crowley, E, Rees, G, Kirov, M C, O'Donovan, M J, Owen, J, Walters, E, Scolnick, P, Sklar, S, Purcell, C M, Hultman, S A, McCarroll, P F, Sullivan   +24 more
openaire   +2 more sources

Pedigrees with copy number variations in IRD genes.

, 2021
Pedigrees with copy number variations in IRD genes.
Pongali B. Raghavendra (11577002), S. Amer Riazuddin (7072268), J. Fielding Hejtmancik (8028365), Kelly A. Frazer (11577020), Hiroko Matsui (8140410), Kari Branham (8791784), Benjamin Bakall (297081), Akhila Alapati (11577008), Naheed W. Khan (7537526), Gabriele Richard (11576993), Jacque L. Duncan (11576987), John Suk (793365), Angel Soto-Hermida (658999), Adda L. Villanueva (11576984), Sindhu Devalaraja (11577005), Sheikh Riazuddin (92774), Jeffrey L. Goldberg (9767388), Shyamanga Borooah (491949), Paul A. Sieving (117954), Luis Gabriel (11576999), Bonnie Huang (2817592), Richard G. Weleber (11577014), John R. Heckenlively (11577017), Berzhan Kurmanov (8263497), Radha Ayyagari (44006), Jason Zhou (8937986), Qais Zawaydeh (11577011), Pooja Biswas (793361), Shahid Y. Khan (8103215), Andrew Huynh (680052)   +29 more
core   +1 more source

Copy Number Variation and Osteoporosis

Current Osteoporosis Reports, 2023
Abstract Purpose of Review The purpose of this review is to summarize recent findings on copy number variations and susceptibility to osteoporosis. Recent Findings Osteoporosis is highly influenced by genetic factors, including copy number variations (CNVs).
openaire   +2 more sources

Identification of Copy Number Variations and Genetic Diversity in Italian Insular Sheep Breeds

Animals, 2022
Copy number variants (CNVs) are one of the major contributors to genetic diversity and phenotypic variation in livestock. The aim of this work is to identify CNVs and perform, for the first time, a CNV-based population genetics analysis with five Italian
Rosalia Di Gerlando, Salvatore Mastrangelo, Marco Tolone, Ilaria Rizzuto, Anna Maria Sutera, Angelo Moscarelli, Baldassare Portolano, Maria Teresa Sardina   +7 more
doaj   +1 more source

Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]

, 2010
Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr, Günter Klambauer, Sepp Hochreiter, Karin Schwarzbauer, Günter Klambauer   +4 more
core   +1 more source

Genomic characteristics of cattle copy number variations

BMC Genomics, 2011
Background Copy number variation (CNV) represents another important source of genetic variation complementary to single nucleotide polymorphism (SNP).
Matukumalli Lakshmi K, Kim Eui-soo, Wang Kai, Cardone Maria, Bickhart Derek M, Liu George E, Hou Yali, Ventura Mario, Song Jiuzhou, VanRaden Paul M, Sonstegard Tad S, Van Tassell Curt P   +11 more
doaj   +1 more source

Somatic Copy Number Alteration detection and Copy Number signature analysis in High-Grade Serous Ovarian Cancer [PDF]

, 2022
openSomatic copy number alterations (sCNAs) are a type of genomic variation that affects the dosage of DNA sequences promoting tumorigenesis such as in High grade serous ovarian cancer.
MICOLI, GIULIA
core  

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +1 more source