A5056529574- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Cancer Genomics and Diagnostics
- Advanced Proteomics Techniques and Applications
- Cancer-related gene regulation
- Computational Drug Discovery Methods
- CRISPR and Genetic Engineering
- Melanoma and MAPK Pathways
- Cell Adhesion Molecules Research
- Epigenetics and DNA Methylation
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
Institute of Cancer Research
2017-2020
University of Groningen
2018
University Medical Center Groningen
2018
Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However, these approaches fail to give a complete picture of genome. They struggle identify structural events, cannot access repetitive regions, and resolve into haplotypes. Here, we describe an approach retains long range information while maintaining...
Wilms tumour is the most common childhood renal cancer and genetically heterogeneous. While several predisposition genes have been identified, there strong evidence that further are likely to exist. Our study aim was identify new for tumour.
Abstract canSAR (http://cansar.icr.ac.uk) is the largest, public, freely available, integrative translational research and drug discovery knowledgebase for oncology. integrates vast multidisciplinary data from across genomic, protein, pharmacological, chemical with structural biology, protein networks more. It also provides unique data, curation annotation crucially, AI-informed target assessment discovery. widely used internationally by academia industry. Here we describe significant...
Abstract Large-scale population based analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short read whole sequencing. However, standard short-read approaches, used primarily due to accuracy, throughput and costs, fail give a complete picture of genome. They struggle identify large, balanced structural events, cannot access repetitive regions resolve into its two...
<ns4:p>The analytical sensitivity of a next generation sequencing (NGS) test reflects the ability to detect real sequence variation. The evaluation relies on availability gold-standard, validated, benchmarking datasets. For NGS analysis suitable datasets has been limited. Most laboratories undertake small scale evaluations using in-house data, and/or rely <ns4:italic>in silico</ns4:italic> generated evaluate performance variant detection pipelines.</ns4:p><ns4:p> Cancer predisposition genes...
<ns4:p>Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial academic NGS pipelines. Such assessments should be performed in a consistent, transparent reproducible fashion, using independently, orthogonally generated data.</ns4:p><ns4:p> Here we present ICR142 Benchmarker, tool to generate outputs assessing germline base substitution indel the validation series, dataset Illumina...
<ns4:p>Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial academic NGS pipelines. Such assessments should be performed in a consistent, transparent reproducible fashion, using independently, orthogonally generated data.</ns4:p><ns4:p> Here we present ICR142 Benchmarker, tool to generate outputs assessing the validation series, dataset exome sequence data from 142 samples together with...