Results 41 to 50 of about 9,740,536 (302)

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  

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 miscarriage copy number variants [PDF]

Molecular Human Reproduction, 2015
Studies of copy number variants (CNVs) in miscarriages are rare in comparison to post-natal cases with developmental abnormalities. The overall characteristics of miscarriage CNVs (size, gene content and function) are therefore largely unexplored. Our goal was to assess and compare the characteristics of CNVs identified in 101 euploid miscarriages from
Hani, Bagheri, Eloi, Mercier, Ying, Qiao, Mary D, Stephenson, Evica, Rajcan-Separovic   +4 more
openaire   +2 more sources

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Copy number variants in patients with short stature [PDF]

European Journal of Human Genetics, 2013
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height.
Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van de Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A.L., Wit, J.M.   +18 more
openaire   +8 more sources

ClassifyCNV: a tool for clinical annotation of copy-number variants

Scientific Reports, 2020
Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements.
Tatiana A. Gurbich, Valery Vladimirovich Ilinsky   +1 more
doaj   +1 more source

Gene copy-number polymorphism caused by retrotransposition in humans. [PDF]

PLoS Genetics, 2013
The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of
Daniel R Schrider, Fabio C P Navarro, Pedro A F Galante, Raphael B Parmigiani, Anamaria A Camargo, Matthew W Hahn, Sandro J de Souza   +6 more
doaj   +1 more source

“We Cannot Talk as a Family”: Complexities of Survivorship Communication Among Hispanic/Latino Young Adult Survivors of Childhood Cancer, Parents, and Clinicians

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Young adult childhood cancer survivors (YA‐CCS) have an increased risk of treatment‐related health complications throughout their lives. Lifelong survivorship care is recommended, yet many YA‐CCS experience disruptions in care during pediatric‐to‐adult transitions and do not receive recommended survivorship care.
Kevin Shanchen Pu, Nicole Fernández‐Viña, Briana C. Martin‐Villa, Daniela Ramirez, Rebecca M. Lewinsohn, Mary Smith, Heidi Boynton, Lidia Schapira, Stephanie M. Smith   +8 more
wiley   +1 more source

Genetic variants in nuclear DNA along with environmental factors modify mitochondrial DNA copy number: a population-based exome-wide association study

BMC Genomics, 2018
Background Mitochondrial DNA (mtDNA) copy number has been found associated with multiple diseases, including cancers, diabetes and so on. Both environmental and genetic factors could affect the copy number of mtDNA.
Zhihua Li, Meng Zhu, Jiangbo Du, Hongxia Ma, Guangfu Jin, Juncheng Dai   +5 more
doaj   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source