NGS-Logistics : Federated analysis of NGS sequence variants across multiple locations
نویسندگان
چکیده
منابع مشابه
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS
Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. Even if present platforms produce high quality sequencing data, false positives variants remain an issue and can confound subsequent analysis and result interpretation. Here, we propose a new tool named GARFIELD-NGS (Genomic vA...
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To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 730 sites; 409 sites with variants and 321 sites at which variants were called by an NGS analysis tool, but no variant is present in the corresponding S...
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Multiple myeloma (MM) is a complex disease, characterized by genomic instability and high levels of clonal heterogeneity. As the disease evolves, the DNA found in plasma cells becomes increasingly disordered, and multiple clones of the malignant cells fight for dominance during progression. Many new therapies for MM now provide improved outcomes, yet still, the complexity of the disease demands...
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OneChannelGUI was initially developed to provide a new set of functions extending the capability of affylmGUI package. oneChannelGUI was designed specifically for life scientists who are not familiar with R language but do wish to capitalize on the vast analysis opportunities of Bioconductor. oneChannelGUI offers a comprehensive microarray analysis for single channel pplatforms. Since Second Ge...
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Motivation Next-generation sequencing is now an established method in genomics, and massive amounts of sequencing data are being generated on a regular basis. Analysis of the sequencing data is typically performed by lab-specific in-house solutions, but the agreement of results from different facilities is often small. General standards for quality control, reproducibility and documentation are...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2014
ISSN: 1756-994X
DOI: 10.1186/preaccept-3696327041308731