[HTML][HTML] Best practices for variant calling in clinical sequencing
DC Koboldt - Genome Medicine, 2020 - Springer
Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …
Biogenesis, identification, and function of exonic circular RNAs
Circular RNAs (circRNAs) arise during post‐transcriptional processes, in which a single‐
stranded RNA molecule forms a circle through covalent binding. Previously, circRNA …
stranded RNA molecule forms a circle through covalent binding. Previously, circRNA …
Perioperative ctDNA-based molecular residual disease detection for non–small cell lung cancer: a prospective multicenter cohort study (LUNGCA-1)
Purpose: We assessed whether perioperative circulating tumor DNA (ctDNA) could be a
biomarker for early detection of molecular residual disease (MRD) and prediction of …
biomarker for early detection of molecular residual disease (MRD) and prediction of …
[HTML][HTML] Integrated molecular and clinical analysis of 1,000 pediatric low-grade gliomas
Pediatric low-grade gliomas (pLGG) are frequently driven by genetic alterations in the RAS-
mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variability in …
mitogen-activated protein kinase (RAS/MAPK) pathway yet show unexplained variability in …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …
[HTML][HTML] Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas
AS Guerreiro Stucklin, S Ryall, K Fukuoka… - Nature …, 2019 - nature.com
Infant gliomas have paradoxical clinical behavior compared to those in children and adults:
low-grade tumors have a higher mortality rate, while high-grade tumors have a better …
low-grade tumors have a higher mortality rate, while high-grade tumors have a better …
Transcriptomic definition of molecular subgroups of small round cell sarcomas
S Watson, V Perrin, D Guillemot… - The Journal of …, 2018 - Wiley Online Library
Sarcoma represents a highly heterogeneous group of tumours. We report here the first
unbiased and systematic search for gene fusions combined with unsupervised expression …
unbiased and systematic search for gene fusions combined with unsupervised expression …
[HTML][HTML] TopHat-Fusion: an algorithm for discovery of novel fusion transcripts
D Kim, SL Salzberg - Genome biology, 2011 - Springer
TopHat-Fusion is an algorithm designed to discover transcripts representing fusion gene
products, which result from the breakage and re-joining of two different chromosomes, or …
products, which result from the breakage and re-joining of two different chromosomes, or …
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
L Noetzli, RW Lo, AB Lee-Sherick, M Callaghan… - Nature …, 2015 - nature.com
Some familial platelet disorders are associated with predisposition to leukemia,
myelodysplastic syndrome (MDS) or dyserythropoietic anemia,. We identified a family with …
myelodysplastic syndrome (MDS) or dyserythropoietic anemia,. We identified a family with …
[HTML][HTML] The molecular landscape of colorectal cancer cell lines unveils clinically actionable kinase targets
The development of molecularly targeted anticancer agents relies on large panels of tumour-
specific preclinical models closely recapitulating the molecular heterogeneity observed in …
specific preclinical models closely recapitulating the molecular heterogeneity observed in …