Results 41 to 50 of about 272,726 (306)

Amaranthus palmeri EPSPS copy number and glyphosate resistance variation [PDF]

, 2021
Gene copy number variation (CNV) has been increasingly associated with organismal responses to environmental stress, but we know little about the quantitative relation between CNV and phenotypic variation.
B., Sarah
core   +1 more source

Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment [PDF]

, 2015
A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions.
Dianne F Newbury, Paracchini, Silvia, Emily Reeves, Charles Hulme, Pettigrew, Kerry A., Hayiou-Thomas, Marianna E., Margaret J Snowling, Simpson, Nuala H., Thompson, Paul A., Paul Thompson, Margaret J. Snowling (782135), Marianna E Hayiou-Thomas, Marianna E. Hayiou-Thomas (782131), Nuala H Simpson, Anahita Sharma, Angela Martinelli (782133), Thompson, Paul; id_orcid, Thompson, Paul, Hulme, Charles, Charles Hulme (782134), Snowling, Margaret J., Ruth Leavett, Silvia Paracchini, Kerry A. Pettigrew (782128), Anahita Sharma (782132), Silvia Paracchini (238619), Emily Reeves (782129), Kerry A Pettigrew, Angela Martinelli, Martinelli, Angela, Newbury, Dianne F., Sharma, Anahita, Ruth Leavett (782130), Dianne F. Newbury (297003), Leavett, Ruth, Paul Thompson (515751), Reeves, Emily, Nuala H. Simpson (703485)   +37 more
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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  

Selections, frameshift mutations, and copy number variation detected on the gene in the western Kenyan population [PDF]

, 2017
Background: Plasmodium falciparum SURFIN4.1 is a putative ligand expressed on the merozoite and likely on the infected red blood cell, whose gene was suggested to be under directional selection in the eastern Kenyan population, but under balancing ...
Kaneko, A,, Ichinose, Yoshio, Yoshio Ichinose, Chan, CW, Yahata, Kazuhide, Gitaka, Jesse Njihia, Kaneko, Akira, Kaneko, Osamu, Akira Kaneko, Gitaka, JN, Francis W. Muregi, Kongere, James, Muregi, Francis W., Mika Takeda, Jesse N. Gitaka, Kongere, J, Kimura, Masatsugu, Chan, Chim W., Kazuhide Yahata, Idris, Zulkarnain Md, Chim W. Chan, Kimura, M, Zulkarnain Md Idris, Osamu Kaneko, Yahata, K, Gitaka, Jesse N., Masatsugu Kimura, James Kongere, Ichinose, Y, Takeda, Mika, Muregi, FW, Takeda, M, Idris, ZM   +32 more
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Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population

Molecular Genetics & Genomic Medicine, 2020
Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown.
Kazuhiko Takeuchi, Yifei Xu, Masako Kitano, Kazuki Chiyonobu, Miki Abo, Koji Ikegami, Satoru Ogawa, Makoto Ikejiri, Mitsuko Kondo, Shimpei Gotoh, Mizuho Nagao, Takao Fujisawa, Kaname Nakatani   +12 more
doaj   +1 more source

Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer

Pathology and Oncology Research, 2022
Background: Histone deacetylase (HDAC) plays a crucial role in regulating the expression and activity of a variety of genes associated with tumor progression and immunotherapeutic processes.
Shuming Yang, Shengzhi Xie, Xinying Shi, Dan Su, Bo He, Yang Xu, Zhefeng Liu   +6 more
doaj   +1 more source

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in Sub-Saharan Africa [PDF]

, 2013
AIDS, caused by the retrovirus HIV, remains the largest cause of morbidity in sub-Saharan Africa yet almost all genetic studies have focused on cohorts from Western countries.
F. Mugusi (7640813), Makonnen, Eyasu, Bowdrey, Jennifer, Viskaduraki Maria, Lee R. Machado (7638830), Eleni Aklillu (316254), Eyasu Makonnen (157087), Mugusi Sabina, Omary Minzi, Mugusi Ferdinand, Getachew Aderaye, Hollox, Edward J, Mohammed Janabi, Yimer Getnet, Machado, Lee, J. Bowdrey (7640783), Eleni Aklillu, Maria Viskaduraki (481734), Bowdrey Jennifer, W. Amogne (7640801), Habtewold Abiy, Minzi Omary, Viskaduraki, Maria, A. Habtewold (7640789), M. Viskaduraki (7640816), Ngaimisi Eliford, Ferdinand Mugusi, Jennifer Bowdrey (481733), Mugusi, Ferdinand, Lee R Machado, Edward J. Hollox (7583051), Abiy Habtewold, Wondwossen Amogne (338194), Lee R. Machado, L. R. Machado (7640780), Sabina Mugusi (316245), O. Minzi (7640792), G. Aderaye (7640810), Aklillu Eleni, Wondwossen Amogne, S. Mugusi (7640804), Getnet Yimer (338188), Ngaimisi, Eliford, Amogne Wondwossen, G. Yimer (7640798), Machado Lee R., E. Aklillu (7640819), Aderaye, Getachew, Hollox Edward J., Minzi, Omary, Aderaye Getachew, Omary Minzi (316248), Makonnen Eyasu, Maria Viskaduraki, Abiy Habtewold (338191), Habtewold, Abiy, E. Ngaimisi (7640786), Jennifer Bowdrey, Eliford Ngaimisi (316246), Eliford Ngaimisi, Mugusi, Sabina, E. Makonnen (7640795), Yimer, Getnet, Amogne, Wondwossen, Mohammed Janabi (431118), Eyasu Makonnen, Edward J. Hollox, Janabi, Mohammed, Aklillu, Eleni, Machado, Lee; id_orcid, Janabi Mohammed, Edward J Hollox, M. Janabi (7640807), Ferdinand Mugusi (214835), Sabina Mugusi, Getnet Yimer, Getachew Aderaye (338201)   +76 more
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Genome wide landscaping of copy number variations for horse inter-breed variability

Animal Biotechnology
Copy number variations (CNVs) have become widely acknowledged as a significant source of genomic variability and phenotypic variance. To understand the genetic variants in horses, CNVs from six Indian horse breeds, namely, Manipuri, Zanskari, Bhutia ...
Nitesh Kumar Sharma, Prashant Singh, Bibek Saha, Anuradha Bhardwaj, Mir Asif Iquebal, Yash Pal, Varij Nayan, Sarika Jaiswal, Shiv Kumar Giri, Ram Avatar Legha, T. K. Bhattacharya, Dinesh Kumar, Anil Rai   +12 more
doaj   +1 more source

Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries [PDF]

, 2011
Background Variation within individual genomes ranges from single nucleotide polymorphisms (SNPs) to kilobase, and even megabase, sized structural variants (SVs), such as deletions, insertions, inversions, and more complex rearrangements.
Kerstens Hindrik HD, Vereijken, A., Martien AM Groenen, Bert W Dibbits, Groenen, M.A.M., Dibbits, B.W., Kerstens, H.H.D., Dibbits Bert W, Okimoto Ron, Hindrik HD Kerstens, Richard PMA Crooijmans, Addie Vereijken, Vereijken Addie, Crooijmans, R.P.M.A., Okimoto, R., Groenen Martien AM, Crooijmans Richard PMA, Ron Okimoto   +17 more
core   +1 more source

Noise cancellation using total variation for copy number variation detection

BMC Bioinformatics, 2018
Background Due to recent advances in sequencing technologies, sequence-based analysis has been widely applied to detecting copy number variations (CNVs).
Fatima Zare, Abdelrahman Hosny, Sheida Nabavi   +2 more
doaj   +1 more source