Results 31 to 40 of about 9,621,488 (249)

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

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, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu   +7 more
doaj   +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
core   +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

Including copy number variation in association studies to predict genotypic values [PDF]

, 2010
The objective of this study was to investigate, both empirically and deterministically, the ability to explain genetic variation resulting from a copy number polymorphism (CNP) by including the CNP, either by its genotype or by a continuous derivation ...
Calus, M.P.L., Haley, C.S., Koning, de, D.J.   +2 more
core   +1 more source

Copy Number Variants in Four Italian Turkey Breeds

Animals, 2021
Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement
Maria Giuseppina Strillacci, Stefano Paolo Marelli, Raffaella Milanesi, Luisa Zaniboni, Chiara Punturiero, Silvia Cerolini   +5 more
doaj   +1 more source

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution [PDF]

, 2010
Chromosomal rearrangements and copy number variants (CNVs) play key roles in genome evolution and genetic disease; however, the molecular mechanisms underlying these types of structural genomic variation are not fully understood.
Skinner, Benjamin M., Bunzey, Sydney K., Ellegren, Hans, Völker, Martin, Backström, Niclas, Langley, Elizabeth J, Griffin, Darren K.   +6 more
core   +1 more source

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +3 more sources

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

BMC Medical Genomics, 2018
Background Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations.
Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty, Dale Muzzey   +4 more
doaj   +1 more source

Trf4 targets ncRNAs from telomeric and rDNA spacer regions and functions in rDNA copy number control [PDF]

, 2007
Trf4 is the poly(A) polymerase component of TRAMP4, which stimulates nuclear RNA degradation by the exosome. We report that in Saccharomyces cerevisiae strains lacking Trf4, cryptic transcripts are detected from regions of repressed chromatin at ...
Houseley, Jonathan, Kotovic, Kimberly, Tollervey, David, El Hage, Aziz   +3 more
core   +1 more source

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

Frontiers in Medicine
PurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang, Shaozhe Yang, Rongxiang Li, Rongxiang Li, Shuwen Xin, Shuwen Xin, Yanqi He, Yanqi He, Shaoxia Teng, Shaoxia Teng, Yanan Gao, Yanan Gao, Xiuhong Fu, Xiuhong Fu   +13 more
doaj   +1 more source