Results for "WGS"
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Dr Eric Londin, Assistant Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more...Tags: Exome, WGS, Sequencing, Clinical, omics, diagnostics
3610 days ago
- A Computational biologist, currently investigating the impact of transposable elements on the adaptation of the rice genome under fungal pathogen challenges and genome duplication. Experienced in using next-generation sequencing technologies like shotgun sequencing, linked reads, and long-read se...
Skills: Programming (Python, Linux, Bash, R), Computational Biology, NGS technologies, WGS, RNA Seq, Repeats, Variant Calling
1124 days ago
WGS Celera Assembler version 8.3rc2
These are release notes for Celera Assembler version 8.3rc2, which was released on May 24, 2015.This distribution package provides a stable, tested, documented version of the software. The distribution is usable on most Unix-like platforms, and some platforms have pre-compiled binary distri...Tags: Bioinformatics, wgs-assembler, WGS, PBcR, Pacbio, Correct, Packages, Tools, Simulation, Fastq
2567 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
1616 days ago
RePS: Repeat-masked Phrap with scaffolding, a WGS sequence assembler
RePS (Repeat-masked Phrap with scaffolding), a WGS sequence assembler, that explicitly identifies exact kmer repeats from the shotgun data and removes them prior to the assembly. The established software Phrap is used to compute meaningful error probabilities for each base. Clone-end-pairing info...Tags: RePS, Repeat, masked, Phrap, scaffolding, WGS, sequence, assembler
1568 days ago
