Results 81 to 90 of about 908,392 (296)

dbVar structural variant cluster set for data analysis and variant comparison [PDF]

F1000Research, 2016
dbVar houses over 3 million submitted structural variants (SSV) from 120 human studies including copy number variations (CNV), insertions, deletions, inversions, translocations, and complex chromosomal rearrangements. Users can submit multiple SSVs to dbVAR  that are presumably identical, but were ascertained by different platforms and samples,  to ...
Lon Phan, Jeffrey Hsu, Le Quang Minh Tri, Michaela Willi, Tamer Mansour, Yan Kai, John Garner, John Lopez, Ben Busby   +8 more
openaire   +3 more sources

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

SVNeoPP: A Workflow for Structural-Variant-Derived Neoantigen Prediction and Prioritization Using Multi-Omics Data

Biology
Background: Tumor neoantigens are key targets for personalized vaccines and T-cell therapies, yet most pipelines focus on neoantigens derived from SNV/small indel and often yield a limited number of high-quality candidates.
Wanyang An, Xiaoxiu Tan, Zhenhao Liu, Li Zou, Manman Lu, Lu Xie   +5 more
doaj   +1 more source

Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]

, 2019
Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han, Chan, Ting-Fung, Chow, Eugene YC, Chu, Catherine, Chung, Claire YL, Hastie, Alex R, Jin, Nana, Kwok, Pui-Yan, Lam, Ernest T, Leung, Alden KY, Levy-Sakin, Michal, Li, Le, Lin, Chin, Ma, Walfred, McCaffrey, Jennifer, Mostovoy, Yulia, Naguib, Ahmed, Pastor, Steven, Poon, Annie, Rajagopalan, Ramakrishnan, Sibert, Justin, Wang, Wei-Ping, Wong, Karen HY, Xiao, Ming, Yip, Kevin Y, Young, Eleanor   +25 more
core   +2 more sources

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients

Frontiers in Reproductive Health
IntroductionHypospermatogenesis is a common histopathological subtype of non-obstructive azoospermia and is characterized by a decrease in the total number of germ cells within the seminiferous tubule as a result of spermatogenic failure.
Nisha Sharma, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain   +4 more
doaj   +1 more source

On the relative proof complexity of deep inference via atomic flows [PDF]

, 2015
We consider the proof complexity of the minimal complete fragment, KS, of standard deep inference systems for propositional logic. To examine the size of proofs we employ atomic flows, diagrams that trace structural changes through a proof but ignore ...
Das, Anupam
core   +3 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Genomic vulnerability of a freshwater salmonid under climate change

Evolutionary Applications
Understanding the adaptive potential of populations and species is pivotal for minimizing the loss of biodiversity in this era of rapid climate change. Adaptive potential has been estimated in various ways, including based on levels of standing genetic ...
Anna Tigano, Tyler Weir, Hillary G. M. Ward, Marika Kirstin Gale, Carmen M. Wong, Erika J. Eliason, Kristina M. Miller, Scott G. Hinch, Michael A. Russello   +8 more
doaj   +1 more source