The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2148
Abstract: As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers in comparison to… read more here.
Keywords: sequencing; genome sequencing; benefit genome; current benefit ... See more keywords
Diagnosis of Viral Diseases Using Deep Sequencing and Metagenomics Analyses.
Sign Up to like & getrecommendations! Published in 2022 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1835-6_22
Abstract: Viruses are ubiquitous in nature and exist in a variety of habitats. The advancement in sequencing technologies has revolutionized the understanding of viral biodiversity associated with plant diseases. Deep sequencing combined with metagenomics is a… read more here.
Keywords: deep sequencing; using deep; sequencing; diseases using ... See more keywords
Selection of target-binding proteins from the information of weakly enriched phage display libraries by deep sequencing and machine learning
Sign Up to like & getrecommendations! Published in 2023 at "mAbs"
DOI: 10.1080/19420862.2023.2168470
Abstract: ABSTRACT Despite the advances in surface-display systems for directed evolution, variants with high affinity are not always enriched due to undesirable biases that increase target-unrelated variants during biopanning. Here, our goal was to design a… read more here.
Keywords: information; weakly enriched; sequencing; machine learning ... See more keywords
Targeted genomic sequencing with probe capture for discovery and surveillance of coronaviruses in bats
Sign Up to like & getrecommendations! Published in 2022 at "eLife"
DOI: 10.1101/2022.04.25.489472
Abstract: Public health emergencies like SARS, MERS, and COVID-19 have prioritized surveillance of zoonotic coronaviruses, resulting in extensive genomic characterization of coronavirus diversity in bats. Sequencing viral genomes directly from animal specimens remains a laboratory challenge,… read more here.
Keywords: discovery surveillance; sequencing; probe capture; capture ... See more keywords
Abstract 425: Linked Target Capture: Rapid and high-performance NGS target enrichment for clinical sequencing applications
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-425
Abstract: With the continued decrease of DNA sequencing costs, targeted next-generation sequencing (NGS) is seeing broad adoption in many research, commercial and clinical settings. However, current target capture methods typically have long, multiday workflows that can… read more here.
Keywords: dna; target capture; target; capture ... See more keywords
Identification of single nucleotide variants using position-specific error estimation in deep sequencing data
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0557-9
Abstract: BackgroundTargeted deep sequencing is a highly effective technology to identify known and novel single nucleotide variants (SNVs) with many applications in translational medicine, disease monitoring and cancer profiling. However, identification of SNVs using deep sequencing… read more here.
Keywords: sequencing data; position specific; single nucleotide; deep sequencing ... See more keywords
Systematic evaluation of supervised machine learning for sample origin prediction using metagenomic sequencing data
Sign Up to like & getrecommendations! Published in 2020 at "Biology Direct"
DOI: 10.1186/s13062-020-00287-y
Abstract: Background The advent of metagenomic sequencing provides microbial abundance patterns that can be leveraged for sample origin prediction. Supervised machine learning classification approaches have been reported to predict sample origin accurately when the origin has… read more here.
Keywords: sequencing; machine learning; prediction; sample origin ... See more keywords
Multiomic sequencing of paired primary and metastatic small bowel carcinoids
Sign Up to like & getrecommendations! Published in 2023 at "F1000Research"
DOI: 10.12688/f1000research.130251.1
Abstract: Background: Small bowel carcinoids are insidious tumors that are often metastatic when diagnosed. Limited mutation landscape studies of carcinoids indicate that these tumors have a relatively low mutational burden. The development of targeted therapies will… read more here.
Keywords: bowel carcinoids; sequencing; small bowel; loss ... See more keywords
Characterization and Comparison of the Rumen Luminal and Epithelial Microbiome Profiles Using Metagenomic Sequencing Technique
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Veterinary Science"
DOI: 10.3389/fvets.2022.799063
Abstract: Bacterial dysbiosis as a result of nutritional, bacterial, viral, and parasitic gastrointestinal infections can adversely affect the metabolism, productivity, and overall health of cattle. The purpose of this project was to characterize the commensal microbiota… read more here.
Keywords: sequencing; rumen luminal; characterization comparison; microbiome ... See more keywords
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14143363
Abstract: Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction… read more here.
Keywords: susceptibility genes; breast cancer; cancer; sequencing ... See more keywords