Results 51 to 60 of about 3,312,497 (352)
Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
Pediatric Blood &Cancer, EarlyView.ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack +12 more
wiley +1 more source
Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR
BioTechniquesRNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli +13 more
doaj +1 more source
Forensic SNP genotyping using nanopore MinION sequencing [PDF]
, 2017 One of the latest developments in next generation sequencing is the Oxford Nanopore Technologies' (ONT) MinION nanopore sequencer. We studied the applicability of this system to perform forensic genotyping of the forensic female DNA standard 9947 A using
Cornelis, Senne +4 more
core +2 more sources
Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM
FEBS Letters, EarlyView.Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley +1 more source
Scientific ReportsIn the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes.
Veronika Mikhaylova +16 more
doaj +1 more source
Mapping the evolution of mitochondrial complex I through structural variation
FEBS Letters, EarlyView.Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source
Demystifying the Discussion of Sequencing Panel Size in Oncology Genetic Testing
European Medical Journal, 2022 Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical
Cecília Durães +3 more
doaj +1 more source
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
BARCOSEL: a tool for selecting an optimal barcode set for high-throughput sequencing
BMC Bioinformatics, 2018 Background Current high-throughput sequencing platforms provide capacity to sequence multiple samples in parallel. Different samples are labeled by attaching a short sample specific nucleotide sequence, barcode, to each DNA molecule prior pooling them ...
Panu Somervuo +5 more
doaj +1 more source
Hidden biases in germline structural variant detection
Genome Biology, 2021 Background Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging.
Michael M. Khayat +10 more
doaj +1 more source