Results 81 to 90 of about 10,451,845 (193)

Copy number variations in alternative splicing gene networks impact lifespan.

PLoS ONE, 2013
Longevity has a strong genetic component evidenced by family-based studies. Lipoprotein metabolism, FOXO proteins, and insulin/IGF-1 signaling pathways in model systems have shown polygenic variations predisposing to shorter lifespan.
Joseph T Glessner, Albert Vernon Smith, Saarene Panossian, Cecilia E Kim, Nagahide Takahashi, Kelly A Thomas, Fengxiang Wang, Kallyn Seidler, Tamara B Harris, Lenore J Launer, Brendan Keating, John Connolly, Patrick M A Sleiman, Joseph D Buxbaum, Struan F A Grant, Vilmundur Gudnason, Hakon Hakonarson   +16 more
doaj   +1 more source

Genome-Wide Detection of Copy Number Variations and Evaluation of Candidate Copy Number Polymorphism Genes Associated With Complex Traits of Pigs

Frontiers in Veterinary Science, 2022
Copy number variation (CNV) has been considered to be an important source of genetic variation for important phenotypic traits of livestock. In this study, we performed whole-genome CNV detection on Suhuai (SH) (n = 23), Chinese Min Zhu (MZ) (n = 11 ...
Chunlei Zhang, Jing Zhao, Yanli Guo, Qinglei Xu, Mingzheng Liu, Meng Cheng, Xiaohuan Chao, Allan P. Schinckel, Bo Zhou   +8 more
doaj   +1 more source

Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays

, 2014
Summary Copy number variations (CNVs) alter the transcriptional and translational levels of genes by disrupting the coding structure and this burden of CNVs seems to be a significant contributor to phenotypic variations.
Veerappa, A. M., Murthy, M. N., Suresh, R. V., Manjegowda, D. S., Veerappa, Avinash M., Vishweswaraiah, S., Ramachandra, N. B., Lingaiah, K., Vishweswaraiah, Sangeetha, Ramachandra, Nallur B., Manjegowda, Dinesh S., Suresh, Raviraj V., Murthy, Megha N., Lingaiah, Kusuma   +13 more
core   +1 more source

Copy Number Variations of Four Y-Linked Genes in Swamp Buffaloes

Animals, 2019
Copy number variation (CNV), a significant source of genetic diversity in the mammalian Y chromosome, is associated with the development of many complex phenotypes, such as spermatogenesis and male fertility.
Ting Sun, Quratulain Hanif, Hong Chen, Chuzhao Lei, Ruihua Dang   +4 more
doaj   +1 more source

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source

Copy Number Variation at the APOL1 Locus

PLOS ONE, 2015
Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease associated with inheritance of two high-risk variants is 7-30 fold, depending on the specific kidney ...
Ruchi, Rupam, Genovese, Giulio, Charoonratana, Victoria T., Bernhardy, Andrea J., Kopp, Jeffrey B., Lee, Jessica, Alper, Seth, Thadhani, Ravi, Friedman, David, Pollak, Martin   +9 more
openaire   +6 more sources

Using the R Package crlmm for Genotyping and Copy Number Estimation [PDF]

Genotyping platforms such as Affymetrix can be used to assess genotype-phenotype as well as copy number-phenotype associations at millions of markers.
Rafael A. Irizarry, Matthew E. Ritchie, Ingo Ruczinski, Robert B. Scharpf, Benilton Carvalho   +4 more
core  

Copy Number Variations In Prenatal And Postnatal Genetic Diagnosis

, 2021
Bakalářská práce je zaměřena na variabilitu počtu kopií a variabilitu lidského genomu. Popisuje obecné informace o variabilitě počtu kopií, fyziologickém fungování v organismu a možných typech dědičnosti.
Dohnalová, Kristýna
core   +1 more source

Validated copy number variations.

, 2013
Abbreviations: CI = confidence interval; na = not available; OR = odds ratio.aAccording to the NCBI Genome Build 36.1 (hg 18). Exact start and end positions of the CNVs are provided in Table S1.bSize reported in HBOC individuals analysed in the SNP array
Johanna Schleutker (200707), Mauno Vihinen (59551), Oyediran Akinrinade (445075), Kirsi M. Kuusisto (445074), Satu-Leena Laasanen (445077), Minna Kankuri-Tammilehto (445076)   +5 more
core   +1 more source

High-resolution SNP microarray investigation of copy number variations on chromosome 18 in a control cohort

, 2013
Copy number variations (CNVs) as described in the healthy population are purported to contribute significantly to genetic heterogeneity. Recent studies have described CNVs using lymphoblastoid cell lines or by application of specifically developed ...
Bryce, M., Hickman, P. E., Potter, J. M., Koerbin, G., Chia, N. L., Glasgow, N., Danoy, P., Brown, M. A., Cavanaugh, J.   +8 more
core   +1 more source