Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
41673362 (PubMed )
Supplement: 43556_2026_405_MOESM3_ESM.xlsx › Common.Cosmic_Mut
Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.
Chambwe N et al.
Scientific Reports, 2025
41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1
Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.
Chambwe N et al.
Biorxiv : the Preprint Server for Biology, 2025
40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants
Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.
Zamuner FT et al.
Nature Communications, 2025
40500270 (PubMed )
Supplement: 41467_2025_59409_MOESM11_ESM.xlsx › Fig_S4A
Applications for Circulating Cell-Free DNA in Oral Squamous Cell Carcinoma: A Non-Invasive Approach for Detecting Structural Variants, Fusions, and Oncoviruses.
Bhattacharya M et al.
Cancers, 2025
40563552 (PubMed )
Supplement: cancers-17-01901-s001.zip › S4_Somatic_nucleotide_variations__annotation_and_filtering.xlsx › Sheet1
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
Establishment and genomic profiling of cholangiocarcinoma cells with functional characterization.
Jaidee R et al.
Scientific Reports, 2025
40074934 (PubMed )
Supplement: 41598_2025_93192_MOESM2_ESM.pdf
Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p-syndrome.
Luan Y et al.
Heliyon, 2025
39959475 (PubMed )
Supplement: mmc2.xlsx › Patient2-snvs
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Case report: A case study of variant calling pipeline selection effect on the molecular diagnostics outcome.
Skitchenko R et al.
Frontiers in Oncology, 2024
Establishment and Characterization of a TP53-Mutated Eyelid Sebaceous Carcinoma Cell Line.
Gu X et al.
Investigative Ophthalmology & Visual Science, 2023
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data
Deciphering Brain Metastasis Stem Cell Properties From Colorectal Cancer Highlights Specific Stemness Signature and Shared Molecular Features.
Desette A et al.
Cellular and Molecular Gastroenterology and Hepatology, 2023
Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.
Lieb V et al.
Cells, 2022
36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All
Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.
Meyers S et al.
Hemasphere, 2022
35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XF101
Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.
Waldenmaier M et al.
Cancers, 2022
35205822 (PubMed )
Supplement: cancers-14-01074-s001.zip › cancers-1571843_supplementary.pdf
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All
Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.
Kommoss FKF et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
33846547 (PubMed )
Supplement: 41379_2021_804_MOESM1_ESM.pdf
2-kupl: mapping-free variant detection from DNA-seq data of matched samples.
Wang Y et al.
Bmc Bioinformatics, 2021
34090332 (PubMed )
Supplement: 12859_2021_4185_MOESM3_ESM.xlsx › Table_S2
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.
Klemke L et al.
Frontiers in Oncology, 2021
34178628 (PubMed )
Supplement: DataSheet_1.pdf
Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.
Cui Y et al.
Plos One, 2021
34478472 (PubMed )
Supplement: pone.0256979.s003.xlsx › COSMICv87_HNSCC
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final
Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.
Hartman ML et al.
Cells, 2020
31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Peng M et al.
Journal of Medical Genetics, 2019
30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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