Results 121 to 130 of about 37,179 (261)
A phase IIa study of the anti‐PD‐L1 antibody avelumab in relapsed/refractory PTCL: The AVAIL‐T trial
British Journal of Haematology, EarlyView.The AVAIL‐T study, the first evaluation of programmed death ligand 1 (PD‐L1) blockade in relapsed/refractory peripheral T‐cell lymphomas (PTCL), demonstrated limited single agent activity with durable responses seen in a minority. Circulating tumour DNA revealed distinct mutational dynamics and mass cytometry identified perturbed T‐cell subsets ...
Matthew J. Ahearne +28 more
wiley +1 more source
Brain Pathology, EarlyView.In a molecularly confirmed cohort of 64 newly diagnosed, TTFields‐treated glioblastomas, IDH‐wildtype, homozygous PTEN deletion was associated with markedly shorter overall survival (368 vs. 603 days) and remained an independent adverse prognostic factor.
Jakob Nückles +15 more
wiley +1 more source
, 2019 Figure S1. Schematic representation of the method used for adding homozygote calls (0/0) corresponding to the reference allele to the RNA-seq per-sample dataset. (PDF 159 kb)
Brouard, Jean-Simon +3 more
openaire +1 more source
Comparing the Performance of Scalpel to GATK-HaplotypeCaller Using Simulated Reads
, 2017 The ability to accurately call variants from next-generation sequencing data (NGS) is a necessity for the success of NGS in clinical genomics. Therefore, there is a need for continuous in-depth reporting on the accuracy of state-of-the-art variant ...
Lueder, Matthew
core
, 2016 <p>This is an implementation of the GATK Best Practices Pipeline. It is implemented on top of the Ruffus pipeline framework in Python. It has been used for the detection of single nucleotide variants (SNVs) and short insertions and deletions ...
Bernie Pope, Bernie Pope (5284810)
core +1 more source
Brain Pathology, EarlyView.A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov +9 more
wiley +1 more source
Cancer Science, EarlyView.Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi +10 more
wiley +1 more source
Integrated Analysis of HER2 Expression and ERBB2 Alterations in Bladder Cancer
Cancer Science, EarlyView.Integrated analysis of 445 bladder cancers showed that HER2 membrane expression and ERBB2 amplification are distinct features. HER2 expression overlapped with NECTIN4 expression, whereas ERBB2 amplification was enriched in the LumU subtype and associated with poor prognosis.
Kensuke Hirosuna +13 more
wiley +1 more source
Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
Clinical Genetics, EarlyView.Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler +5 more
wiley +1 more source
Clinical Genetics, EarlyView.Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund +5 more
wiley +1 more source