Results 31 to 40 of about 908,392 (296)

Spectrum and Density of Gamma and X-ray Induced Mutations in a Non-Model Rice Cultivar

Plants, 2022
Physical mutagens are a powerful tool used for genetic research and breeding for over eight decades. Yet, when compared to chemical mutagens, data sets on the effect of different mutagens and dosages on the spectrum and density of induced mutations ...
Joanna Jankowicz-Cieslak, Bernhard J. Hofinger, Luka Jarc, Sini Junttila, Bence Galik, Attila Gyenesei, Ivan L. Ingelbrecht, Bradley J. Till   +7 more
doaj   +1 more source

Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities

Frontiers in Genetics, 2020
The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice.
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, Francesco Albano   +6 more
doaj   +1 more source

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [PDF]

, 2016
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects ...
Ashworth, M, Baksi, AJ, Barton, PJR, Buchan, RJ, Cook, SA, Daubeney, P, Homfray, T, John, S, McKee, S, Murday, V, Prasad, S, Rea, G, Roses-Noguer, F, Stewart, FJ, Taylor, RW, Till, J, Walsh, R, Ware, JS, Wilk, A, Wilkinson, S   +19 more
core   +1 more source

Precision Medicine in a Community Cancer Center: Pan-Cancer DNA/RNA Sequencing of Tumors Reveals Clinically Relevant Gene Fusions

Biologics, 2023
Background: Gene fusions occur when two independent genes form a hybrid gene through genomic rearrangements, which often leads to abnormal expression and function of an encoded protein.
Sourat Darabi, Carlos E. Zuazo, David R. Braxton, Burton L. Eisenberg, Michael J. Demeure   +4 more
doaj   +1 more source

An integrated map of structural variation in 2,504 human genomes [PDF]

, 2015
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we
Abyzov, A., Alkan, C., Antaki, D., Auton, A., Bae, T., Bashir, A., Batzer, M.A., Casale F.P., Cerveira, E., Chaisson, M.J.P., Chen J., Chen, K., Chines P., Chong, Z., Clarke L., Dal, E., Dayama G., Devine, S.E., Ding L., Eichler, E.E., Emery, S., Fan X., Flicek P., Fritz, M.H.-Y., Gardner, E.J., Garrison, E., Gerstein, M.B., Gibbs, R.A., Gujral, M., Handsaker, R.E., Hormozdiari F., Huddleston J., Jun G., Kahveci F., Kashin, S., Kidd J.M., Kong, Y., Konkel, M.K., Korbel J.O., Lam H.Y.K., Lameijer, E.-W., Lee, C., Malhotra, A., Malig, M., Marth G., Mason, C.E., McCarroll, S.A., McCarthy, S., Meiers, S., Menelaou, A., Mills, R.E., Mu X.J., Muzny, D.M., Nelson, B.J., Noor, A., Parrish, N.F., Pendleton, M., Quitadamo, A., Raeder, B., Rausch, T., Romanovitch, M., Schadt, E.E., Schlattl, A., Sebat J., Sebra, R., Shabalin, A.A., Shi X., Stegle O., Stütz, A.M., Sudmant P.H., Untergasser, A., Walker J.A., Walter, K., Wang, M., Ye, K., Yu F., Zhang J., Zhang, C., Zhang, Y., Zheng-Bradley X., Zhou W., Zichner, T.   +81 more
core   +1 more source

TRPV1 splice variants: structure and function [PDF]

Frontiers in Bioscience, 2010
The capsaicin receptor (TRPV1) is a non-selective cation channel predominantly expressed in specialized sensory neurons that detect painful stimuli. Although its many functional roles continue to be revealed, it has been confirmed to play a critical role in the perception of peripheral inflammatory hyperalgesia and pain.
Mark A, Schumacher, Helge, Eilers
openaire   +2 more sources

Genetic Predictors of Mortality in Patients with Multiple Myeloma

The Application of Clinical Genetics, 2021
Hamza Hassan,1 Raphael Szalat1,2 1Department of Hematology and Medical Oncology, Boston University Medical Center, Boston, MA, USA; 2Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USACorrespondence: Raphael ...
Hassan H, Szalat R
doaj  

Recent advances and current challenges in population genomics of structural variation in animals and plants

Frontiers in Genetics, 2022
The field of population genomics has seen a surge of studies on genomic structural variation over the past two decades. These studies witnessed that structural variation is taxonomically ubiquitous and represent a dominant form of genetic variation ...
Ivan Pokrovac, Željka Pezer
doaj   +1 more source

Comprehensive analysis of structural variants in chickens using PacBio sequencing

Frontiers in Genetics, 2022
Structural variants (SVs) are one of the main sources of genetic variants and have a greater impact on phenotype evolution, disease susceptibility, and environmental adaptations than single nucleotide polymorphisms (SNPs). However, SVs remain challenging
Jinxin Zhang, Changsheng Nie, Xinghua Li, Xiurong Zhao, Yaxiong Jia, Jianlin Han, Yu Chen, Liang Wang, Xueze Lv, Weifang Yang, Kaiyang Li, Jianwei Zhang, Zhonghua Ning, Haigang Bao, Chunjiang Zhao, Junying Li, Lujiang Qu   +16 more
doaj   +1 more source

SVIM: Structural Variant Identification using Mapped Long Reads

, 2019
Motivation: Structural variants are defined as genomic variants larger than 50bp. They have been shown to affect more bases in any given genome than SNPs or small indels. Additionally, they have great impact on human phenotype and diversity and have been
Heller, D., Vingron, M.
core   +1 more source