Results 61 to 70 of about 358,877 (267)

SMaSH: A Benchmarking Toolkit for Human Genome Variant Calling

, 2014
Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human
Bresler, Ma'ayan, Curtis, Kristal, Hartl, Christopher, Jordan, Michael I., Liptrap, Jesse, Newcomb, Julie, Patterson, David, Song, Yun S., Talwalkar, Ameet, Terhorst, Jonathan   +9 more
core   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Evaluation of deep learning for predicting rice traits using structural and single-nucleotide genomic variants

Plant Methods
Background Structural genomic variants (SVs) are prevalent in plant genomes and have played an important role in evolution and domestication, as they constitute a significant source of genomic and phenotypic variability.
Ioanna-Theoni Vourlaki, Sebastián E. Ramos-Onsins, Miguel Pérez-Enciso, Raúl Castanera   +3 more
doaj   +1 more source

Machine Learning for Integrating Data in Biology and Medicine: Principles, Practice, and Opportunities

, 2018
New technologies have enabled the investigation of biology and human health at an unprecedented scale and in multiple dimensions. These dimensions include a myriad of properties describing genome, epigenome, transcriptome, microbiome, phenotype, and ...
Goldenberg, Anna, Hoffman, Michael M., Leskovec, Jure, Nguyen, Francis, Wang, Bo, Zitnik, Marinka   +5 more
core   +1 more source

Detection of Genomic Structural Variants from Next-Generation Sequencing Data [PDF]

, 2015
Structural variants are genomic rearrangements larger than 50?bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and ...
D\u27Aurizio, Romina
core   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Feline hypersomatotropism and acromegaly tumorigenesis: a potential role for the AIP gene [PDF]

, 2017
Acromegaly in humans is usually sporadic, however up to 20% of familial isolated pituitary adenomas are caused by germline sequence variants of the aryl-hydrocarbon-receptor interacting protein (AIP) gene.
Catchpole, B, Church, D B, Forcada, Y, Fowkes, R C, Niessen, S J M, Scudder, C J   +5 more
core   +2 more sources

Insights into structural variations and genome rearrangements in prokaryotic genomes [PDF]

Bioinformatics, 2014
Abstract Structural variations (SVs) are genomic rearrangements that affect fairly large fragments of DNA. Most of the SVs such as inversions, deletions and translocations have been largely studied in context of genetic diseases in eukaryotes. However, recent studies demonstrate that genome rearrangements can also have profound impact on
Vinita, Periwal, Vinod, Scaria
openaire   +2 more sources

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Enterovirus D68 Sequence Variations and Pathogenicity: A Review

Viruses
Enterovirus D68 (EV-D68), a neurotropic respiratory pathogen, poses a considerable clinical threat through its link to pediatric acute flaccid myelitis (AFM) and severe respiratory illness. The possibility of recurrent epidemics, evidenced since the 2014
Yi Zhu, Liting Wang, Jun Shen
doaj   +1 more source