Results 111 to 120 of about 709,139 (287)

Effect of Database Size in the Genetic Variants Calling

Proceedings of the 12th International Joint Conference on Biomedical Engineering Systems and Technologies, 2019
The base quality score recalibration (BQSR) is an important step in the variant calling from high-throughput sequence data. Motivated by the fact that BQSR necessarily requires a database of known variants such as the dbSNP, we present an extensive analysis on BQSR results for human and rice genome.
Sunhee Kim, Young-Suk Lee, Chang-Yong Lee   +2 more
openaire   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Red panda: a novel method for detecting variants in single-cell RNA sequencing

BMC Genomics, 2020
Background Single-cell sequencing enables us to better understand genetic diseases, such as cancer or autoimmune disorders, which are often affected by changes in rare cells.
Adam Cornish, Shrabasti Roychoudhury, Krishna Sarma, Suravi Pramanik, Kishor Bhakat, Andrew Dudley, Nitish K. Mishra, Chittibabu Guda   +7 more
doaj   +1 more source

A context‐dependent modulatory role for eIF6 in acquired resistance to vemurafenib in melanoma

FEBS Letters, EarlyView.
Acquired resistance to vemurafenib upregulates the translation factor eIF6 in melanoma cells. Silencing eIF6 in resistant cells reduces proliferation and partially restores drug sensitivity, whereas its overexpression increases sensitivity across melanoma lines regardless of BRAF status, via modulation of mTOR, S6K, and MAPK signaling.
George Kyriakopoulos, Antonia Petropoulou, Alexandra Anastogianni, Angelina Bania, Vassilis Stamatakis, Argyris Alexiou, Chi‐Ping Day, Glenn Merlino, Katerina Grafanaki, Constantinos Stathopoulos   +9 more
wiley   +1 more source

Metastatic niche shaped by host factors influences disseminated cancer cell fate

FEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward, Álvaro Ruiz‐Tabas, Patricia Altea‐Manzano   +2 more
wiley   +1 more source

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Variant calling statistics for the datasets^a.

, 2020
Variant calling statistics for the datasetsa.
Dmitriy Korostin (5267344), Vladimir Naumov (8582277), Nikolay Kulemin (8582274), Dmitriy Kwon (8582283), Vera Belova (8582280), Alexey Gorbachev (2161690)   +5 more
core   +1 more source

Recommendations for Uniform Variant Calling of SARS-CoV-2 Genome Sequence across Bioinformatic Workflows

Viruses
Genomic sequencing of clinical samples to identify emerging variants of SARS-CoV-2 has been a key public health tool for curbing the spread of the virus.
Ryan Connor, Migun Shakya, David A. Yarmosh, Wolfgang Maier, Ross Martin, Rebecca Bradford, J. Rodney Brister, Patrick S. G. Chain, Courtney A. Copeland, Julia di Iulio, Bin Hu, Philip Ebert, Jonathan Gunti, Yumi Jin, Kenneth S. Katz, Andrey Kochergin, Tré LaRosa, Jiani Li, Po-E Li, Chien-Chi Lo, Sujatha Rashid, Evguenia S. Maiorova, Chunlin Xiao, Vadim Zalunin, Lisa Purcell, Kim D. Pruitt   +25 more
doaj   +1 more source

Invisible but not inaccessible—Revealing transient oligomers formed by intrinsically disordered proteins with solution NMR and complementary methods

FEBS Letters, EarlyView.
Transient oligomers formed by intrinsically disordered proteins may be ‘invisible’ to direct detection yet remain accessible to solution NMR through equilibrium‐exchange measurements and pressure‐jump experiments. Complementary methods report on mass, stoichiometry, selected distance distributions, morphology, and internal packing.
Martin D. Gelenter, Ad Bax
wiley   +1 more source

Community Development of Validated Variant Calling Pipelines

, 2013
Presentation at Genome Informatics 2013:   Translational research relies on accurate identification of genomic variants. However, rapidly changing best practice approaches in alignment and variant calling, coupled with large data sizes, make it a ...
Rory Kirchner (479079), Oliver Hofmann (415422), Brad Chapmann (479078), Winston Hide (2409)   +3 more
core   +1 more source