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2025
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis
Journal of Clinical Neurology
2025
Development of single nucleotide polymorphism (SNP) markers and construction of DNA fingerprinting of Alcea rosea L. based on specific-locus amplified fragment sequencing (SLAF-seq) technology
Genetic Resources and Crop Evolution
2025
The clinical and molecular landscape of breast cancer in women of African and South Asian ancestry
Nature Communications
2025
Genome-Wide Association Studies Provide Molecular Insights into the Genetic Determination of the Fruit Shape-Related Traits of Actinidia eriantha
Horticulturae
2025
Performance comparison of germline variant calling tools in sporadic disease cohorts
Molecular Genetics and Genomics
2025
Integrative research: Current trends and considerations for biomarker discovery and precision medicine
The Microbe
2024
Artificial intelligence and neoantigens: paving the path for precision cancer immunotherapy
Frontiers in Immunology
2023
A Bioinformatics Toolkit for Next-Generation Sequencing in Clinical Oncology
Current Issues in Molecular Biology
2023
Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data
Scientific Reports
2022
BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation
International Journal of Gynecological Cancer
2022
Genetic Diversity of Rhanterium eppaposum Oliv. Populations in Kuwait as Revealed by GBS
Plants
2022
Targeted Sequencing Identifies the Genetic Variants Associated with High-altitude Polycythemia in the Tibetan Population
Indian Journal of Hematology and Blood Transfusion
2021
Multiple Variant Calling Pipelines in Wheat Whole Exome Sequencing
International Journal of Molecular Sciences
2021
Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels
BMC Bioinformatics
2021
Benchmarking variant callers in next-generation and third-generation sequencing analysis
Briefings in Bioinformatics
2021
Set-theory based benchmarking of three different variant callers for targeted sequencing
BMC Bioinformatics
2020
Main Strategies for the Identification of Neoantigens
Cancers
2020
Computational Prediction and Validation of Tumor-Associated Neoantigens
Frontiers in Immunology
2020
SNP discovery of Camellia oleifera based on RNA-seq and its application for identification of genetic relationships and locus for oil content among different cultivars
The Journal of Horticultural Science and Biotechnology
2020
Characterization of Genetic and Allelic Diversity Amongst Cultivated and Wild Lentil Accessions for Germplasm Enhancement
Frontiers in Genetics
2019
Identification of red blood cell membrane defects in a patient with hereditary spherocytosis using next‑generation sequencing technology and matrix‑assisted laser desorption/ionization time‑of‑flight mass spectrometry
Molecular Medicine Reports
2018
OVAS: an open-source variant analysis suite with inheritance modelling
BMC Bioinformatics
2018
A patient-derived xenograft pre-clinical trial reveals treatment responses and a resistance mechanism to karonudib in metastatic melanoma
Cell Death & Disease
2018
Analysis of Theileria orientalis draft genome sequences reveals potential species-level divergence of the Ikeda, Chitose and Buffeli genotypes
BMC Genomics
2018
Insights Into de novo Mutation Variation in Lithuanian Exome
Frontiers in Genetics
2018
BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population
PLOS ONE
2016
Real‐world data in the molecular era—finding the reality in the real world
Clinical Pharmacology & Therapeutics
2016
From Wet‐Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
Human Mutation
2016
Impact of post-alignment processing in variant discovery from whole exome data
BMC Bioinformatics
2016
MICADo – Looking for Mutations in Targeted PacBio Cancer Data: An Alignment-Free Method
Frontiers in Genetics
2016
Lecture Notes in Computer Science
2016
Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing
International Journal of Genomics
2016
Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples
Scientific Reports
2016
Intra‐individual polymorphism in chloroplasts from NGS data: where does it come from and how to handle it?
Molecular Ecology Resources
2015
PPLine: An Automated Pipeline for SNP, SAP, and Splice Variant Detection in the Context of Proteogenomics
Journal of Proteome Research
2015
Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics
Genome Biology
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