More posts like this
-
How to modify Chromosome names in genome fasta file
written by Elisa •Hi everyone, I'd like to know how to modify chromosome names in my genome fasta file. Specifically, I'd like to substitute: chr1_1-hap-1 chr2_1-hap-1 ... chrX_1-hap-1 …
-
which tool can I use to detect CNVs?
written by Elisa •Hi everyone, I have performed target sequencing on tumour samples (with MiSeq, Illumina). I must perform CNV detection, which tool do you suggest me to …
-
Validation of somatic variant calling pipeline
written by Elisa •Hi everyone, I've implemented a somatic variant calling pipeline in order to detect somatic variants in ovaric tumour samples (Targeted Sequencing done by MiSeq, Illumina). …
-
somatic variant calling with Mutect2
written by Elisa •Hi everybody, I am performing somatic variant calling on NGS data (NGS targeted sequencing performed with Illumina MiSeq) using Mutect2. I do not have the …
-
variant calling
written by Elisa •Hi everyone, I must perform somatic variant calling on ovarian samples (targeted sequencing performed with Illumina). I do not have the control match; it is …
-
adding a contig fasta to reference genome fasta
written by Elisa •Hi everyone, I'd like to add 'chr1_KI270763v1_alt.fa' (929.9 kB) sequence to my reference genome 'genome.fa' (grch38-3.2 GB). Is it possible and which tool shall I …
-
Local realignment around indels
written by Elisa •Hi everyone, I'm new in bioinformatics field. I'd like to know how to and which are the best tools for local realignment around indels. I …
-
Comparative analysis of experimental and control data from BS seq run
written by kspataHi All, I have one control sample and 3 experimental samples sequenced on HiSeq using Bisulfite sequencing protocol. I aligned the reads to the hg38 …
-
Structural variants calling in a population
written by guillaume.rbtHi all, I'm currently struggling with structural variant calling. I would like to call those structural variants for all samples in my population of haploid …
-
Best pratices for variant calling on deep sequencing TruSeq Custom Amplicon data
written by adp7 •Hi, I'm trying to analyze a panel of genes in tumor samples using truseq custom amplicon (TSCA) with average depth ~2000X. I was wondering if …
How about the nextflow pipeline
sarekwhich does all that.https://github.com/nf-core/sarek