The molecular landscape of glioma in patients with Neurofibromatosis 1
Abstract Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in
which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a …
which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a …
DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome
Progressive meningiomas that have failed surgery and radiation have a poor prognosis and
no standard therapy. While meningiomas are more common in females overall, progressive …
no standard therapy. While meningiomas are more common in females overall, progressive …
Molecular profiles of BRCA1‐associated ovarian cancer treated by platinum‐based therapy: Analysis of primary, residual and relapsed tumors
AP Sokolenko, IV Bizin… - … Journal of Cancer, 2020 - Wiley Online Library
Our study aimed to analyze the evolution of molecular portraits of BRCA1‐driven ovarian
cancer (OC) during treatment. BRCA1 loss‐of‐heterozygosity status (LOH) and exome …
cancer (OC) during treatment. BRCA1 loss‐of‐heterozygosity status (LOH) and exome …
The clinical implementation of copy number detection in the age of next-generation sequencing
JY Hehir-Kwa, BBJ Tops… - Expert Review of Molecular …, 2018 - Taylor & Francis
Introduction: The role of copy number variants (CNVs) in disease is now well established. In
parallel NGS technologies, such as long-read technologies, there is continual development …
parallel NGS technologies, such as long-read technologies, there is continual development …
Integrative genomic and transcriptomic profiling of pulmonary sarcomatoid carcinoma identifies molecular subtypes associated with distinct immune features and …
Background Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of
non‐small cell lung cancer (NSCLC), characterized by the presence of epithelial and …
non‐small cell lung cancer (NSCLC), characterized by the presence of epithelial and …
DECA: scalable XHMM exome copy-number variant calling with ADAM and Apache Spark
Background XHMM is a widely used tool for copy-number variant (CNV) discovery from
whole exome sequencing data but can require hours to days to run for large cohorts. A more …
whole exome sequencing data but can require hours to days to run for large cohorts. A more …
Comparative genomics of CXCR4MUT and CXCR4WT single cells in Waldenström's macroglobulinemia
C Jiménez, L Xu, N Tsakmaklis, MG Demos, A Kofides… - Blood Advances, 2020 - Elsevier
Methods We selected 1 untreated patient with the clinicopathologic diagnosis of WM, with
mutated MYD88 and CXCR4 for this proof-of-concept study. Single-cell sorting was …
mutated MYD88 and CXCR4 for this proof-of-concept study. Single-cell sorting was …
Hadoop-CNV-RF: A Scalable Copy Number Variation Detection Tool for Next-Generation Sequencing Data
Detection of small copy number variations (CNVs) in clinically relevant genes is routinely
being used to aid diagnosis. We recently developed a tool, CNV-RF, capable of detecting …
being used to aid diagnosis. We recently developed a tool, CNV-RF, capable of detecting …