Search Results - "Caloian, Cristian"
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Valection: design optimization for validation and verification studies
Published in BMC bioinformatics (25-09-2018)“…Platform-specific error profiles necessitate confirmatory studies where predictions made on data generated using one technology are additionally verified by…”
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Germline contamination and leakage in whole genome somatic single nucleotide variant detection
Published in BMC bioinformatics (31-01-2018)“…The clinical sequencing of cancer genomes to personalize therapy is becoming routine across the world. However, concerns over patient re-identification from…”
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Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
Published in Nature methods (01-07-2015)“…The first report of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge introduces the BAMSurgeon tool for accurate tumor simulation and reports the…”
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Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection
Published in Genome Biology (06-11-2018)“…The phenotypes of cancer cells are driven in part by somatic structural variants. Structural variants can initiate tumors, enhance their aggressiveness, and…”
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Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease
Published in Alzheimer's & dementia (01-06-2016)“…Abstract Identifying accurate biomarkers of cognitive decline is essential for advancing early diagnosis and prevention therapies in Alzheimer's disease. The…”
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A community challenge to evaluate RNA-seq, fusion detection, and isoform quantification methods for cancer discovery
Published in Cell systems (18-08-2021)“…The accurate identification and quantitation of RNA isoforms present in the cancer transcriptome is key for analyses ranging from the inference of the impacts…”
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SeqControl: process control for DNA sequencing
Published in Nature methods (01-10-2014)“…SeqControl uses 15 quality metrics of high-throughput sequencing experiments to predict how much sequencing is needed to reach a desired depth of coverage. As…”
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