Tags: Exome, WGS, Sequencing, Clinical, omics, diagnostics
3588 days ago
SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file. SeqMule also has some built-in...Tags: Bioinformatics, Analysis, Assembly, Genome, SeqMule, Exome, Structure, Variation
2579 days ago
mosdepth: fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
mosdepth can output: per-base depth about 2x as fast samtools depth--about 25 minutes of CPU time for a 30X genome.mean per-window depth given a window size--as would be used for CNV calling.the mean per-region given a BED file of regions.a distribution of proportion of bases covered at or above...Tags: mosdepth, fast, BAM, CRAM, depth, calculation, WGS, exome, target, sequencing
1594 days ago
SeqMule: Automated human exome/genome variants detection
SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file.Tags: SeqMule, Automated, human, exome, genome, variants, detection
1501 days ago