Essays about: "Variant calling"
Showing result 6 - 10 of 10 essays containing the words Variant calling.
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6. SVenX: A highly parallelized pipeline for structural variation detection using linked read whole genome sequencing data
University essay from Lunds universitet/Examensarbeten i bioinformatikAbstract : Genomic rearrangements larger than 50 bp are called structural variants. As a group, they affect the phenotypic diversity among humans and have been associated with many human disorders including neurodevelopmental disorder and cancer. READ MORE
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7. Quality control of a somatic mutation analysis pipeline for next generation sequencing data
University essay from Uppsala universitet/Institutionen för immunologi, genetik och patologiAbstract : Many studies are focused on analysis of next generation sequencingdata from normal and cancer tissues with the intention ofidentifying somatic mutations in cancer. In brief, the producedsequences are mapped to the reference genome; later the data fromthe tumour and normal sample is compared to identify mutations inthe tumour. READ MORE
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8. Analysis of somatic mutations in papillomavirus positive tumours from younger and older oropharyngeal cancer patients
University essay from Högskolan i Skövde/Institutionen för biovetenskapAbstract : ABSTRACT Background: Human Papilloma Virus positive (HPV+) Oropharyngeal Squamous Cell Carcinoma (OSCC), dominated by tonsillar cancer (TSCC) and base of tongue cancer (BOTSCC) has low mutation-frequency and better survival for younger than older patients.Aim: To examine if HPV+ TSCC and BOTSCC have distinct gene-mutation profiles, for 50 often-mutated genes in cancer, in younger compared to older patients and to test and compare different variant callers to get a deeper understanding of the data. READ MORE
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9. Variant Calling and Microarray Expression Analysis in Pancreatic Islet Samples
University essay from Lunds universitet/Examensarbeten i bioinformatikAbstract : Abstract This article describes the creation of a pipeline for variant calling from high-throughput next-generation exome and RNA sequencing data using commonly used bioinformatics tools. High-throughput sequencing data from six pancreatic islet cell samples were analyzed using the pipeline, and the resulting variant calls were validated against chip genotyping data from the same individuals. READ MORE
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10. Optimized Composition of Parallel Components on a Linux Cluster
University essay from Institutionen för datavetenskap; Tekniska högskolanAbstract : We develop a novel framework for optimized composition of explicitly parallel software components with different implementation variants given the problem size, data distribution scheme and processor group size on a Linux cluster. We consider two approaches (or two cases of the framework). READ MORE
