Citation sources

Updated weekly. Details via Crossref
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2025
Lymphoma driver mutations at the root of somatic evolution of nerve-damaging autoantibodies in myelin associated glycoprotein neuropathy
Journal of Autoimmunity
2025
Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease
Science Translational Medicine
2025
Identifying genetic errors of immunity due to mosaicism
Journal of Experimental Medicine
2025
Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities
Human Genomics
2024
Principles of digital sequencing using unique molecular identifiers
Molecular Aspects of Medicine
2024
Benchmarking UMI-aware and standard variant callers for low frequency ctDNA variant detection
BMC Genomics
2023
Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data
Scientific Reports
2022
Detection of minor variants in Mycobacterium tuberculosis whole genome sequencing data
Briefings in Bioinformatics
2022
Methods in Molecular Biology
2022
UMIErrorCorrect and UMIAnalyzer: Software for Consensus Read Generation, Error Correction, and Visualization Using Unique Molecular Identifiers
Clinical Chemistry
2021
Methods in Molecular Biology
2021
Reducing noise and stutter in short tandem repeat loci with unique molecular identifiers
Forensic Science International: Genetics
2021
Detecting pathogenic variants in autoimmune diseases using high‐throughput sequencing
Immunology & Cell Biology
2020
Detection Methods in Precision Medicine
2020
UMI-VarCal: a new UMI-based variant caller that efficiently improves low-frequency variant detection in paired-end sequencing NGS libraries
Bioinformatics
2020
Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody
Cell
2020
UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries
Computational and Structural Biotechnology Journal
2019
Advances in Clinical Chemistry
2019
Calling Variants in the Clinic: Informed Variant Calling Decisions Based on Biological, Clinical, and Laboratory Variables
Computational and Structural Biotechnology Journal
2019
smCounter2: an accurate low-frequency variant caller for targeted sequencing data with unique molecular identifiers
Bioinformatics
2018
Lecture Notes in Computer Science
2018
A review of somatic single nucleotide variant calling algorithms for next-generation sequencing data
Computational and Structural Biotechnology Journal
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