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   Articles with "variant detection" as a keyword



Generative haplotype prediction outperforms statistical methods for small variant detection in next-generation sequencing data

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recommendations! Published in 2024 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btae565

Abstract: Detection of germline variants in next-generation sequencing data is an essential component of modern genomics analysis. Variant detection tools typically rely on statistical algorithms such as de Bruijn graphs or Hidden Markov Models, and are… read more here.

Keywords: detection; generation sequencing; next generation; sequencing data ... See more keywords

Lightning-fast genome variant detection with GROM

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recommendations! Published in 2017 at "GigaScience"

DOI: 10.1093/gigascience/gix091

Abstract: Abstract Current human whole genome sequencing projects produce massive amounts of data, often creating significant computational challenges. Different approaches have been developed for each type of genome variant and method of its detection, necessitating users… read more here.

Keywords: lightning fast; snvs indels; detection; genome variant ... See more keywords
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Fast and cost-effective SARS-CoV-2 variant detection using Oxford Nanopore full-length spike gene sequencing.

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recommendations! Published in 2023 at "Microbial genomics"

DOI: 10.1099/mgen.0.001013

Abstract: Most biologically relevant and diagnostic mutations in the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genome have been identified in the S gene through global genomic surveillance efforts. However, large-scale whole-genome sequencing (WGS) is still challenging… read more here.

Keywords: cov variant; cost effective; variant detection; gene ... See more keywords

Deep-Ensemble and Multifaceted Behavioral Malware Variant Detection Model

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recommendations! Published in 2022 at "IEEE Access"

DOI: 10.1109/access.2022.3168794

Abstract: Every day, hundreds of thousands of new malware programs are developed and spread worldwide in cyberspace. Most of these malware programs are malware variants such as polymorphic and metamorphic malware, which are created from older… read more here.

Keywords: malware variant; variant detection; detection model; malware ... See more keywords

Genetic variant detection in a South African haemophilia B population

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recommendations! Published in 2024 at "Haemophilia"

DOI: 10.1111/hae.14978

Abstract: Haemophilia B is characterised by a deficiency of factor IX (FIX) protein due to genetic variants in the FIX gene (F9). Genetic testing may have a vital role in effectively managing haemophilia B. However, in… read more here.

Keywords: african haemophilia; genetic variant; south african; variant detection ... See more keywords

A 1-year study on SARS-CoV-2 variant shifts in wastewater using dPCR: comparison with clinical and GISAID data

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recommendations! Published in 2025 at "mSystems"

DOI: 10.1128/msystems.00229-25

Abstract: ABSTRACT Wastewater testing can be used to monitor SARS-CoV-2 infections in communities. Data from PCR-based wastewater testing are usually available to public health authorities within 5–7 days after excreta and other body fluids enter the… read more here.

Keywords: sars cov; cov variant; wastewater; pcr ... See more keywords

Abstract 2067: Rapid somatic and germline variant detection using the novel G4 sequencing platform and GPU acceleration

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recommendations! Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-2067

Abstract: Introduction: There remains a need to reduce next-generation sequencing (NGS) turnaround for time-sensitive applications. Reducing turnaround requires faster sequencing and accelerated data analysis. We recently introduced the Singular Genomics G4TM platform for rapid sequencing-by-synthesis (SBS),… read more here.

Keywords: germline variant; variant detection; gpu; detection ... See more keywords

Abstract 6626: Comprehensive, high sensitivity, high resolution, somatic variant detection in solid tumors with LinkPrep - an NGS assay

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recommendations! Published in 2025 at "Cancer Research"

DOI: 10.1158/1538-7445.am2025-6626

Abstract: The characterization of somatic variants, including structural variants (SVs), copy number variations (CNVs), and single-nucleotide variants (SNVs), is essential for understanding tumor biology. Current methodologies for somatic variant profiling are fragmented across several assays and… read more here.

Keywords: detection; resolution; somatic variant; sensitivity ... See more keywords

SARS-CoV-2 variant detection from wastewater: rapid spread of B.1.1.7 lineage in Hungary.

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recommendations! Published in 2022 at "Journal of water and health"

DOI: 10.2166/wh.2022.179

Abstract: Wastewater-based epidemiology (WBE) is a recognised tool for tracking community transmission of COVID-19. From the second half of 2020, the emergence of new, highly infective, more pathogenic or vaccine-escape SARS-CoV-2 variants is the major public… read more here.

Keywords: cov variant; wastewater; variant detection; detection ... See more keywords

Bioinformatics: From NGS Data to Biological Complexity in Variant Detection and Oncological Clinical Practice

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recommendations! Published in 2022 at "Biomedicines"

DOI: 10.3390/biomedicines10092074

Abstract: The use of next-generation sequencing (NGS) techniques for variant detection has become increasingly important in clinical research and in clinical practice in oncology. Many cancer patients are currently being treated in clinical practice or in… read more here.

Keywords: bioinformatics ngs; clinical practice; variant detection; ngs data ... See more keywords

Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders

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recommendations! Published in 2025 at "Diagnostics"

DOI: 10.3390/diagnostics15141803

Abstract: Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies,… read more here.

Keywords: sequencing structural; read sequencing; long read; rare genetic ... See more keywords