Login
GettyImages-1134464539 1
Filter
Search

Velsera in action.

8 Publications
07/24/2023
Whole genome sequencing for metastatic mutational burden in extraskeletal myxoid chondrosarcoma
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare cancer that makes up less than 3% of all soft tissue sarcomas. It most often arises in the soft tissues of the proximal limbs and has a higher incidence in males. Though...
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare cancer that makes up less than 3% of all soft tissue sarcomas. It most often arises in the ...
06/20/2023
Building a collaborative cloud platform to accelerate heart, lung, blood, and sleep research
Research increasingly relies on interrogating large-scale data resources. The NIH National Heart, Lung, and Blood Institute developed the NHLBI BioData CatalystⓇ (BDC), a community-driven ecosystem where researchers...
Research increasingly relies on interrogating large-scale data resources. The NIH National Heart, Lung, and Blood Institute developed the NHLBI BioDat...
02/23/2023
Addressing barriers in FAIR data practices for biomedical data
FAIR data sharing is integral to spur research reproducibility, promote data reuse, and accelerate research. However, the first step in using these data assets – discovering that they exist – is compounded by problems in incentives, standardization, and coordination of efforts...
FAIR data sharing is integral to spur research reproducibility, promote data reuse, and accelerate research. However, the first step in using these da...
10/2021
NGS-based profiling of key cancer genes in Indian triple-negative breast cancer patients reinforces molecular heterogeneity of the disease
Triple-negative breast cancers (TNBC) are one of the most aggressive forms of breast cancers. With poor patient outcomes, it presents a great burden on the healthcare...
Triple-negative breast cancers (TNBC) are one of the most aggressive forms of breast cancers. With poor patient outcomes, it presents a great burden o...
10/19/2020
Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms
The extensively employed limited-gene coverage NGS panels lead to clinically inadequate molecular profiling of myeloid neoplasms. The...
The extensively employed limited-gene coverage NGS panels lead to clinically inadequate molecular profiling of myeloid neoplasms. The...
10/14/2020
Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers
Genes involved in 3′-splice site recognition during mRNA splicing constitute an emerging class of oncogenes. SF3B1 is the most frequently mutated splicing factor in cancer, and SF3B1 mutants corrupt branchpoint recognition...
Genes involved in 3′-splice site recognition during mRNA splicing constitute an emerging class of oncogenes. SF3B1 is the most frequently mutated spli...
06/04/2020
Comparison of mutational profiles and clinical outcomes in patients with acute myeloid leukemia with mutated RUNX1 versus acute myeloid leukemia with myelodysplasia-related changes with mutated RUNX
Studies comparing the prognostic role of RUNX1 mutations...
Studies comparing the prognostic role of RUNX1 mutations...
06/2020
Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants
The identification of tumour mutational burden (TMB) as a biomarker of response to programmed cell death...
The identification of tumour mutational burden (TMB) as a biomarker of response to programmed cell death...

Driving scientific and medical innovation.

8 Publications
09/13/2023
Global impact of somatic structural variation on the cancer proteome
Both proteome and transcriptome data can help assess the relevance of non-coding somatic mutations in cancer. Here, we combine mass spectrometry-based proteomics data with whole genome sequencing data across 1307 human tumors spanning various tissues...
Both proteome and transcriptome data can help assess the relevance of non-coding somatic mutations in cancer. Here, we combine mass spectrometry-based...
09/07/2023
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours
Cancer immunotherapies including immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR) T-cell therapy have shown variable response rates in paediatric patients highlighting the need to...
Cancer immunotherapies including immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR) T-cell therapy have shown variable response rates in...
08/28/2023
Pan-cancer atlas of somatic core and linker histone mutations
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes in cancer. However, the prevalence and the clinical and biological implications of histone gene mutations in malignant tumors..
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes in cancer. However, the pre...
05/16/2023
A comprehensive review and conceptual framework for cloud computing adoption in bioinformatics
The healthcare industry generates enormous amounts of data, particularly in genomics, which require effective handling, storage, and analysis. Cloud computing offers a promising solution to these challenges...
The healthcare industry generates enormous amounts of data, particularly in genomics, which require effective handling, storage, and analysis. Cloud c...
02/24/2021
Cross-reactivity of NRASQ61R antibody in a subset of Spitz nevi with 11p gain: a potential confounding factor in the era of pathway-based diagnostic approach
The most recent World Health Organization classification for skin tumors (2018) categorizes melanomas and their precursor lesions, benign or intermediate, into nine pathways based not only on their clinical and histomorphologic characteristics but also on their molecular profile ...
The most recent World Health Organization classification for skin tumors (2018) categorizes melanomas and their precursor lesions, benign or intermedi...
10/19/2020
Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms
The extensively employed limited-gene coverage NGS panels lead to clinically inadequate molecular profiling of myeloid neoplasms. The aim of the present investigation was to assess performance and clinical utility of a comprehensive DNA panel for myeloid neoplasms. Sixty-one prev...
The extensively employed limited-gene coverage NGS panels lead to clinically inadequate molecular profiling of myeloid neoplasms. The aim of the prese...
05/13/2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease
Next-generation sequencing (NGS) is a useful tool for evaluating patients with suspected genetic kidney disease. Clinical practice relies on the use of targeted gene panels that are ordered based on patient presentation. We compare the diagnostic yield of clinical panel-based tes...
Next-generation sequencing (NGS) is a useful tool for evaluating patients with suspected genetic kidney disease. Clinical practice relies on the use o...
07/27/2018
A Utility Tool for Personalised Medicine
Biomedical research is drowning in data, yet starving for knowledge. As the volume of scientific literature is growing unprecedentedly, revolutionary measures are needed for data management. Accessibility, analysis and mining knowledge from this textual data has become a very imp...
Biomedical research is drowning in data, yet starving for knowledge. As the volume of scientific literature is growing unprecedentedly, revolutionary ...