Results 51 to 60 of about 3,213,365 (353)

Demystifying the Discussion of Sequencing Panel Size in Oncology Genetic Testing

European Medical Journal, 2022
Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical
Cecília Durães, Carla Pereira Gomes, Jose Luis Costa, Luca Quagliata   +3 more
doaj   +1 more source

YAMAT-seq: an efficient method for high-throughput sequencing of mature transfer RNAs. [PDF]

, 2017
Besides translation, transfer RNAs (tRNAs) play many non-canonical roles in various biological pathways and exhibit highly variable expression profiles.
Honda, Shozo, Kirino, Yohei, Loher, Phillipe, Rigoutsos, Isidore, Shigematsu, Megumi, Telonis, Aristeidis G.   +5 more
core   +2 more sources

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

FEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan, Lu Qi, Pierre Zalloua   +2 more
wiley   +1 more source

Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

Scientific Reports
In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes.
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen   +16 more
doaj   +1 more source

BARCOSEL: a tool for selecting an optimal barcode set for high-throughput sequencing

BMC Bioinformatics, 2018
Background Current high-throughput sequencing platforms provide capacity to sequence multiple samples in parallel. Different samples are labeled by attaching a short sample specific nucleotide sequence, barcode, to each DNA molecule prior pooling them ...
Panu Somervuo, Patrik Koskinen, Peng Mei, Liisa Holm, Petri Auvinen, Lars Paulin   +5 more
doaj   +1 more source

MinION Analysis and Reference Consortium: Phase 1 data release and analysis [PDF]

, 2015
The advent of a miniaturized DNA sequencing device with a high-throughput contextual sequencing capability embodies the next generation of large scale sequencing tools.
Benedict Paten, Bonnie L. Brown, Camilla L.C. Ip, David A. Eccles, David Buck, Elizabeth M. Batty, Ewan Birney, Hans J. Jansen, Hugh E. Olsen, Jared T. Simpson, John M. Urban, John R. Tyson, Justin O'Grady, Mariateresa de Cesare, Matthew Loose, MinION Analysis and Reference Consortium, Miten Jain, Paolo Piazza, Richard M. Leggett, Rory J. Bowden, Sara Goodwin, Solomon Mwaigwisya, Terrance P. Snutch, Vadim Zalunin   +23 more
core   +2 more sources

ERBIN limits epithelial cell plasticity via suppression of TGF‐β signaling

FEBS Letters, EarlyView.
In breast and lung cancer patients, low ERBIN expression correlates with poor clinical outcomes. Here, we show that ERBIN inhibits TGF‐β‐induced epithelial‐to‐mesenchymal transition in NMuMG breast and A549 lung adenocarcinoma cell lines. ERBIN suppresses TGF‐β/SMAD signaling and reduces TGF‐β‐induced ERK phosphorylation.
Chao Li, Gerard van der Zon, Peter ten Dijke, Tong Shen   +3 more
wiley   +1 more source

Efficient Method for Molecular Characterization of the 5′ and 3′ Ends of the Dengue Virus Genome

Viruses, 2020
Dengue is a mosquito-borne disease that is of major importance in public health. Although it has been extensively studied at the molecular level, sequencing of the 5′ and 3′ ends of the untranslated regions (UTR) commonly requires specific approaches for
Alicia Rosales-Munar, Diego Alejandro Alvarez-Diaz, Katherine Laiton-Donato, Dioselina Peláez-Carvajal, Jose A. Usme-Ciro   +4 more
doaj   +1 more source

Hidden biases in germline structural variant detection

Genome Biology, 2021
Background Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging.
Michael M. Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan, Leming Shi, Richard A. Gibbs, Marghoob Mohiyuddin, Yuanting Zheng, Fritz J. Sedlazeck   +10 more
doaj   +1 more source

Thermostable neutral metalloprotease from Geobacillus sp. EA1 does not share thermolysin's preference for substrates with leucine at the P1′ position

FEBS Letters, EarlyView.
Knowing how proteases recognise preferred substrates facilitates matching proteases to applications. The S1′ pocket of protease EA1 directs cleavage to the N‐terminal side of hydrophobic residues, particularly leucine. The S1′ pocket of thermolysin differs from EA's at only one position (leucine in place of phenylalanine), which decreases cleavage ...
Grant R. Broomfield, Torsten Kleffmann, David J. Saul, Sigurd M. Wilbanks   +3 more
wiley   +1 more source