BMC Medical Genomics

Papers
(The H4-Index of BMC Medical Genomics is 21. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
Detection of gene fusions using targeted next-generation sequencing: a comparative evaluation63
A random forest based biomarker discovery and power analysis framework for diagnostics research56
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases41
Detecting copy number variation in next generation sequencing data from diagnostic gene panels39
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE)36
Modifiable lifestyle factors and severe COVID-19 risk: a Mendelian randomisation study33
Design and user experience testing of a polygenic score report: a qualitative study of prospective users32
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies31
Bioinformatic analysis reveals an exosomal miRNA-mRNA network in colorectal cancer29
A pan-cancer study of selenoprotein genes as promising targets for cancer therapy28
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration26
Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis26
Integrative analyses of biomarkers and pathways for heart failure25
Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism25
Identification of potential therapeutic targets for atherosclerosis by analysing the gene signature related to different immune cells and immune regulators in atheromatous plaques25
High performance logistic regression for privacy-preserving genome analysis24
Integrated analysis of lncRNA–miRNA–mRNA ceRNA network and the potential prognosis indicators in sarcomas24
SARS-COV-2 as potential microRNA sponge in COVID-19 patients23
Identifying the role of transient receptor potential channels (TRPs) in kidney renal clear cell carcinoma and their potential therapeutic significances using genomic and transcriptome analyses22
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders22
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia21
CD44 is a prognostic biomarker and correlated with immune infiltrates in gastric cancer21
Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations21
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