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Showing 3 open source projects for "reference"
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An integrated pipeline for forensic analysis from SNP panel data. 1. SNP caller takes a FASTQ file and reference SNP panel as input and generates SNP calls. 2. Kinship analysis 3. Ancestry prediction 4. Data quality check 5. Replicate analysis 6. Mixture analysis module available by request
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NGS data quality evaluation
Python tool to evaluate the quality of high-throughput sequencing data
ngsdataqeval is a Python tool to evaluate the quality of high-throughput sequencing data, used by Next Generation Sequencing. Unlike other tools that analyze raw data, this is designed to evaluate the quality of the processed reads after mapping to a reference genome. The evaluation is performed in a genomic region defined by the user, and it provides some statistics computed from the reads that map to that region (ie. a single gene). The program provides a graphical output embedded in an html file. The analysis contains the sequencing quality along the reads, the mapping quality distribution, the coverage of the defined region, the overall quality at each nucleotide position, and the distribution of the coverage as a function of the GC content in the reference genome. ... -
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