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VUSkb, one place to triage VUS with ACMG evidence, literature, and ClinVar alerts: feedback welcome!
Hi everyone, I’m part of the Vgenomics team that built VUSkb (vuskb.com). We created it to reduce the time spent jumping across browsers/spreadsheets...VUSKB - A comprehensive repository for genetic variants of uncertain clinical significance, advancing precision medicine and genomic research!
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QC, Alignment, and Mapping: Recommended Tools for Next-Level Sequencing Analysis
- Published: 05-16-2023, 10:17 AM
- 0 comments
in ArticlesQC, Alignment, and Mapping: Recommended Tools for Next-Level Sequencing Analysis
With new tools and computational resources being released regularly, it can be hard to determine which are best suited for the analysis process and which older tools continue to be maintained. In an effort to assist the sequencing community, we interviewed three highly skilled bioinformaticians about their recommended tools for several important analysis applications.
Quality control and preprocessing tools
“Garbage in, garbage out” is a popular... -
Using Copy Number Alterations detected in other studies for the same tumor cell line
Hello everybody,
It is my first time working with cancer genomes and I have some doubts. I found this study in which they provide a lot of...
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Downsampling tool benchmark
Hi all,
I'm new to the bioinformatics world and one of the things I've wanted to find out is how do downsampling tools ( like samtools, seqtk,...Last edited by novak; 12-17-2021, 03:09 AM.
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Pairwise sequence comparison tools for larger sequence
I want to compare some nucleotide sequences coding to protein of Beauveria bassiana & Metarhizium anisopliae (Entomopathogenic fungi). Please suggest...
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Tools for gene/pathway conervation analysis among genomes
I am interested in looking at a number of genes in 2 or 3 closely related eukaryotic genomes. I think interesting questions to answer would be:
...
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get coverage of a particular transcript from bedgraph
i have a bedgraph..
1 0 10540 0
1 10540 10564 4
1 10564 10569 5
1 10569 10590 ...
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need help to download SPLINTER mutation caller
I am interested to try SPLINTER to detect the mutation with pooled sequencing data. I've already registered on ibridge and ordered the licence with my...
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Possible Database Manual Curation Project?
I am an final year undergraduate student majoring in Bioinformatics. As a cumulative assignment, I need to work on a Bioinformatics project for a year....
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Installed bwa, but there are no bwa files produced in Galaxy
Hello guys,
I've got a problem with the integration of the BWA Tool in Galaxy.
I installed BWA and Galaxy in a virtual box and...
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Pre-written tools for gene burden tests?
Hello everyone,
I am writing to ask about tools that perform gene burden tests that are already written and will work on a VCF file....