https://bioinfo.cipf.es/bierwiki/ 2026-04-05T03:57:20+0200 https://bioinfo.cipf.es/bierwiki/ https://bioinfo.cipf.es/bierwiki/oinfo.cipf.es/bierwiki/lib/tpl/arctic/images/favicon.ico text/html 2016-06-24T15:51:09+0200 Anonymous (anonymous@undisclosed.example.com) https://bioinfo.cipf.es/bierwiki/espinos/exome_analysis?rev=1466776269&do=diff Analysis of Whole-Exome Sequencing data for diagnosis of Inherited Peripheral Neuropathies 1. Methods 1.1 Pipeline's description [pipeline_scheme] 1.2 Primary Analysis * Read counts from BAM files generated by both pipelines were obtained using FastQC in different quality control steps performed as well as using text/html 2016-06-24T15:53:35+0200 Anonymous (anonymous@undisclosed.example.com) https://bioinfo.cipf.es/bierwiki/espinos/results.coverage.analysis.2?rev=1466776415&do=diff 2.2 Coverage Analysis - Neuropathies-related genes coverage Coverage by gene * CMT (Charcot-Marie-Tooth disease) genes detailed mean coverage by sample [BIER] [CNAG] [CMT genes BIER] [CMT genes CNAG] * HSN-HSMN (Hereditary Sensory (and Motor) Neuropathies) genes detailed mean coverage by sample text/html 2015-08-12T11:05:47+0200 Anonymous (anonymous@undisclosed.example.com) https://bioinfo.cipf.es/bierwiki/espinos/results.coverage.analysis?rev=1439370347&do=diff 2.2 Coverage Analysis - All exome coverage Here, we show an overview of all exome coverage obtained after processing reads in each pipeline. Main statistical indicators included in each table: * Total_Cov_bases: total sum of all base pairs coverage of each interval (exome capture kit target) text/html 2016-06-24T15:51:51+0200 Anonymous (anonymous@undisclosed.example.com) https://bioinfo.cipf.es/bierwiki/espinos/results.primary.analysis.2?rev=1466776311&do=diff 2.1 Primary Analysis - Variants comparison Overview All unique variants detected Unique variants detected in neuropathies-related genes Summary by sample * N_var: number of total variants detected by each pipeline * N_var_neuropathies: number of variants detected by each pipeline found in neuropathies-related genes text/html 2015-09-27T19:34:12+0200 Anonymous (anonymous@undisclosed.example.com) https://bioinfo.cipf.es/bierwiki/espinos/results.primary.analysis?rev=1443375252&do=diff 2.1 Primary Analysis - Sequence processing After sequencing, reads are mapped to the human genome reference (GRCh37). Then, there are some filtering steps in which the number of reads decreases until variant calling. Here, we describe how this reduction occurs in each pipeline.