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What's new New publication on the NAR web server issue! https://doi.org/10.1093/nar/gkae358 (2024/05/16) Added Annotation tracks to Peak Browser, together with UI improvement (2023/10/25) Launched Diff Analysis tool enabling to detect differential peaks or differentially methylated regions (2023/10/25) New publication on the NAR web server issue! https://doi.org/10.1093/nar/gkac199 (2022/03/24) Ad
a reference DataBase of human STructural vARiation from sequencing data For the last several years, High Throughput Sequencing (HTS) has been widely used to highlight the molecular causes for inherited diseases. Among those causes Structural Variations (SVs) play a key role in human diseases. Different types of SVs exist including deletions, duplications, insertions, inversions and translocations.
My learning notes for R, Unix, Perl, statistics, tools/resources, biology etc. everything about Bioinformatics 1. Understanding the adaptors (skip this part if you're familiar with the Illumina adaptor) Before trimming anything from the reads, let's get clear what the reads content is. Taking Trufseq reads (from Illumina HiSeq 2000) as example, here is the read file (fastq) looks like: $ cat r1.fq
The State of Variant Annotation: A Comparison of AnnoVar, snpEff and VEP Up until a few weeks ago, I thought variant classification was basically a solved problem. I mean, how hard can it be? We look at variants all the time and say things like, âWell that one is probably not too detrimental since itâs a 3 base insertion, but this frameshift is worth looking into.â What we fail to recognize is jus
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