Tag: VCF

michigan imputation server 0 Hi, I performed imputation on my GWAS data using Michigan imputation server. Now I have two output files: 1).dose.vcf.gz and 2).info.gz Michigan imputation server use mimimac3 (–format GT,DS,GP) and in the output file “.dose.vcf.gz” are present all the three formats. I’m new on this kind of…

michigan imputation server 0 Hi, I performed imputation on my GWAS data using Michigan imputation server. Now I have two output files: 1).dose.vcf.gz and 2).info.gz Michigan imputation server use mimimac3 (–format GT,DS,GP) and in the output file “.dose.vcf.gz” are present all the three formats. I’m new on this kind of…

R: Main bedtools wrapper function. tabix {bedr} R Documentation Main bedtools wrapper function. Description Main bedtools wrapper function. Usage tabix( region, file.name, params = NULL, tmpDir = NULL, deleteTmpDir = TRUE, outputDir = NULL, outputFile = NULL, check.zero.based = TRUE, check.chr = TRUE, check.valid = TRUE, check.sort = TRUE, check.merge…

R: Main bedtools wrapper function. tabix {bedr} R Documentation Main bedtools wrapper function. Description Main bedtools wrapper function. Usage tabix( region, file.name, params = NULL, tmpDir = NULL, deleteTmpDir = TRUE, outputDir = NULL, outputFile = NULL, check.zero.based = TRUE, check.chr = TRUE, check.valid = TRUE, check.sort = TRUE, check.merge…

BAM dataset to Genotype data conversion using PLINK 1 You must use a genotype caller in order to obtain genotypes from a .bam file. It’s not possible to ‘convert’ .bam to genotypes. There’s a lot of options, but maybe using bcftools is the most simple. Take a read of this…

BAM dataset to Genotype data conversion using PLINK 1 You must use a genotype caller in order to obtain genotypes from a .bam file. It’s not possible to ‘convert’ .bam to genotypes. There’s a lot of options, but maybe using bcftools is the most simple. Take a read of this…

Does REF of a SNP in vcf must same as referance genome? 0 Does REF in VCF refer to the base of the reference genome or the base that is the majority of the population? My purpose is to add some VCF made by others into my VCF. My population…

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vcftools 012 apparently is giving me wrong genotypes 0 Hi, I want to convert a vcf to a numeric format. I am using vctools 012 using vcftools/0.1.16. This is how my vcf looks like: zcat file.vcf.gz | grep -v “#” | cut -f 1,2,10,11,12 | head -n 4 Chr01 1076…

Trouble indexing a .vcf.gz file 1 Hello everyone, I am trying to index a .vcf.gz file in order to get a fasta consensus with bcftools this is the simple command i give: tabix myFile.vcf.gz and I get the next error: [E: :get_intv] failed to parse TBX_VCF, was wrong -p [type]…

Below is a Python API solution using the pyvcf submodule from the fuc package I wrote. Imagine you have the following data: >>> from fuc import pyvcf >>> data = { … ‘CHROM’: [‘chr1’, ‘chr1’, ‘chr1’, ‘chr1’], … ‘POS’: [100, 101, 102, 103], … ‘ID’: [‘.’, ‘.’, ‘.’, ‘.’], ……

012 genotype matrix using vcf tools 1 Hello everyone, I have a vcf-file contains nearly 11millions SNPs. I want to convert my vcf file into 012 genotype matrix for LD pruning. I am using this code: /data/programs/vcftools_0.1.13/bin/vcftools –vcf my.file.vcf –012 –out output_geno.vcf So, I get the output, but I am…

Consensus sequence calling with normalisation of indels 0 I’m following the workflow suggested by samtools here to produce a fasta with the consensus sequence. samtools.github.io/bcftools/howtos/consensus-sequence.html The workflow goes like this: # call variants bcftools mpileup -Ou -f reference.fa alignments.bam | bcftools call -mv -Oz -o calls.vcf.gz bcftools index calls.vcf.gz #…

SKATO hangs after going through several genes 0 Hi there I’m doing skato analysis with rvtest/2.1.0. My script: rvtest –inVcf file.vcf.gz –pheno phenofile –out newfile –geneFile refFlat_hg19.txt –kernel skato it runs for a while, but them skato seems to hang after a few genes Retrieve remote version failed, use ‘–noweb’…

bcftools consensus -m file.bed error 0 Hi everyone, with bcftools consensus I’m trying to substitute the regions with low coverage with ‘N’. I made a BED file from the bam file with bedtools: bedtools genomecov -bga -ibam [file.bam] | awk ‘$4<5’ > low_coverage.bed output: 1 0 10001 0 1 10001…

Why bcftools can not call some variant in consensus sequence 0 Hi everyone! I have a query regarding the consensus sequence I used the below command to create a consensus sequence. bcftools mpileup -f ref.fasta mapped.bam -d 80000 | bcftools call -c | vcfutils.pl vcf2fq > cons.fq If I see…

Why bcftools can not call some variant in consensus sequence 0 Hi everyone! I have a query regarding the consensus sequence I used the below command to create a consensus sequence. bcftools mpileup -f ref.fasta mapped.bam -d 80000 | bcftools call -c | vcfutils.pl vcf2fq > cons.fq If I see…

Source: minimac4 Version: 1.0.2-3 X-Debbugs-CC: debian…@lists.debian.org Severity: serious User: debian…@lists.debian.org Usertags: regression Dear maintainer(s), With a recent upload of minimac4 the autopkgtest of minimac4 fails in testing when that autopkgtest is run with the binary packages of minimac4 from unstable. It passes when run with only packages from testing. In…

Source: minimac4 Version: 1.0.2-3 X-Debbugs-CC: debian…@lists.debian.org Severity: serious User: debian…@lists.debian.org Usertags: regression Dear maintainer(s), With a recent upload of minimac4 the autopkgtest of minimac4 fails in testing when that autopkgtest is run with the binary packages of minimac4 from unstable. It passes when run with only packages from testing. In…

Creating SNP index 0 Hello, I’m having a problem in creating SNP index of Brassica allopolyploids using gmap. Where can I find the SNP data of Brassica? In order to create a pseudo genome I need to have the SNP index. I have tried the snpindex command of gmap with…

Using tabix to subset a region from a VCF file 0 I’ve read quite a few posts that suggest I can subset my VCF file for a region of interest using Tabix. However, when I try as below the output file is empty VCF=”/Volumes/Seagate Expansion Drive/temp/130iPSC_061118.snp.vcf.gz” tabix -p vcf “$VCF”…

Good morning, I’m new in bioinformatics and I need some help with a task . I’m trying to create a consensus file fasta from a sorted.marked.bam with bcftools. The command I’m using is: call variants bcftools mpileup -B -Ou -f reference.fa alignments.bam | bcftools call -mv -M -Oz -o calls.vcf.gz…

Convert SHAPEIT haps file to vcf 0 I’ve phased some sequencing using SHAPEIT, producing two files: 125QiPSC.haps 125QiPSC.log I would now like to subset the file for my SNPs of interest. To achieve this, I’m first attempting to convert it to a vcf. The SHAPEIT manual suggests this can be…

I can get SHAPEIT to work with the default Plink PED/MAP format input files, but not with a VCF as input. As an example, here I use the demo data that comes with SHAPEIT, which runs well. DEMO=/Users/michaelflower/bin/shapeit.v2.904.3.10.0-693.11.6.el7.x86_64/example shapeit -B $DEMO/gwas.bed $DEMO/gwas.bim $DEMO/gwas.fam -M $DEMO/genetic_map.txt -O “$DIR”/shapeit/gwas.phased However, when I…

Polyploidy found, and not supported by vcftools for a diploid data set. 0 Hi, I used gatk mutect2-select variant (retained only SNPs)-combinegvcfs to generate a vcf file for a diploid species. When I tried to process the vcf file using vcf tools, some of the commands did work, however, when…

Extract the DP and AD from VCF file along with the chromosome postion and alteration 2 Hi, I would like to extract the DP and AD from my VCF file, along with the chromosome position and alteration Example VCF file CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SRRS1…

Extract the DP and AD from VCF file along with the chromosome postion and alteration 2 Hi, I would like to extract the DP and AD from my VCF file, along with the chromosome position and alteration Example VCF file CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SRRS1…

I’d like to phase the SNPs in a vcf file and output consensus files for each haplotype, as suggested in this post: www.biostars.org/p/298635/ I’ve managed to install beagle in a conda environment: conda create -n beagle -c conda-forge -c bioconda beagle conda activate beagle When I run beagle using this…

Hi all. I have a problem. Code posted below for those who want to take a look. I have a series of 167 .bam files I need to variant call for my project. Aside from them being an absolute nightmare to work with on other grounds, a new problem has…

Post filtering analysis for exome data 0 Hello I am following GATK pipeline to process exome data set. I am done with preprocessing step and filtered the dataset by hard filtering method. Now, I am looking for variants shared between the affected individuals. In the vcf file, I get the…

heterozygous SNV AB>0.15, heterozygous indel<0.20 in UKB-WES 0 These gVCFs were joint genotyped using GLnexus (www.biorxiv.org/content/10.1101/572347v1) to create a single, unfiltered project-level VCF (pVCF). Genotype depth filters (SNV DP≥7, indel DP≥10) were applied prior to variant site filters requiring at least one variant genotype passing an allele balance filter (heterozygous…

phasing VCF files with missing genotype 0 I want to phasing a VCF file with missing value(./.), the output I want get (a VCF also)is all the genotype are phased, but the ./. will not be imputed. I have tried shapeit and beagle, but both of them impute the missing…

error while annotating vcf file using snpEff 0 I want to annotate my vcf file with geneid of ensemble. I used snpEff tool to annotate vcf file with geneID of ensemble. But in my case its the same gene ID being assigned for every rsid. This is the command I…

Quality score discrepency (bcftool and freebayes) 0 Hello, I variant called my data using both bcftools and freebayes, In the vcf they differ in how they report their Phred quality score. Bcftools reported quality for the same variant site as 56, while freebayes reported it as 530. I was wondering…

How do I get bcftools to rename some samples in a .vcf file? 1 I am trying to use the reheader tool from bcftools in order to rename some samples in a .vcf.gz file, but it does not work, and is giving some pretty strange errors. Before trying to rename…

identification of ROH using plink 0 Hello All I generated vcf file using GATK (First Haplotypecaller –> CombinedGVCF –> GenotypeGVCF and then Hard filtering ). After this, I converted filtered vcf file into plink binary PED files (.bed, .fem, .bim, plink v1.9) using –make-bed command. However, when I used these…

Shared variants 1 Hello I have exome data sets from 6 individuals, in which 4 are affected and 2 are not affected. I have to identify the variants which are shared between the four affected individuals. I did the joint call genotyping for the 4 affected individuals and filtered the…

I’ve extracted chromosome 4 from a whole genome bam file as follows: samtools view -h “$BAM” chr4 > “$EXT/temp/”$PREFIX”_chr4.sam” samtools view -bS “$EXT”/temp/$PREFIX”_chr4.sam” > “$EXT”/temp/$PREFIX”_chr4.bam” Then added read groups, as required by GATK picard AddOrReplaceReadGroups I=”$BAM” O=”$EXT”/temp/$PREFIX”_chr4_rg.bam” RGID=4 RGLB=lib1 RGPL=ILLUMINA RGPU=unit1 RGSM=20 Index the bam: samtools index “$BAM” Download the…

admixTools convertf error on ped file: “snp order check fail; snp list not ordered” 0 I am trying to run the convertf tool in AdmixTools, as I have successfully run before. I am getting an error (warning perhaps? Because it appears to run to completion..?) that “snp order check fail;…

Creating a per sample file from multi-sample vcf 1 I have a multi-sample vcf file and I want to get a table of IDs on the left column with the variants in which they have an alternate allele in. It should look like this: ID1 chr2:87432:A:T_0/1 chr10:43234:C:G_1/1ID2 chr2:87432_A:T_1/1ID3 chr11:432434:T:G chr14:34234234:C:G…

PGT only available for some variants in GATK .vcf 1 I’ve got a vcf file someone else prepared using GATK. I’m interested in the phasing information in the PGT tag e.g. 0|1. This information seems to be available for some variants, but not for others e.g. below chr1 16977 ….

GATK Mutect2 errors during basic variant calling 0 I’ve just installed GATK and am trying to do some basic variant calling. However when I try and run this line gatk Mutect2 -R $REF -I “$BAM” -O “$DIR”/gatk/$PREFIX”_bwa_gatk_unfiltered.vcf” I get the error below. Reading the output, it looks like this is…

Windows-Bases Software Packages Which Can Analyze Vcf Files 6 I would like to work with VCF files. Select one person, subset one gene or chromosome or chromosome part. I tried VMware and Ubuntu and VCFtools and GATK and tabix but I run into a lot of errors. I don’t have…

Error: htsjdk.tribble.TribbleExpection: The provided VCF file is malformed at approximately line number 5880: Duplicate allele added to VariantContext: GT 2 I am trying to index a vcf file using igvtools. For some reason, I am getting the following error. Error: htsjdk.tribble.TribbleExpection: The provided VCF file is malformed at approximately line…

Phasing with Beagle 5.2 and no reference panel 0 Hi everyone, I have a question about phasing with Beagle 5.2 without a reference panel. I have seen in answers in a couple other posts about Beagle that trying to phase with too few samples and no reference panel is not…

False negatives -Hard filtering 0 Hello I need some suggestions in filtering the variants in the exome data. I combined all the GVCF files as one file and did joint call genotyping and created one vcf file. The variants in the file were hard-filtered. As first step to evaluate the…

How can I know what is a good and bad variant call? 0 Hi, this is my first post/question, sorry if it is not allowed. I am generating variant calls with a variant caller. The variant caller I am using is bcftools. I am analyzing/looking the VCF in Excel and…

Malformed walker argument using MarkDuplicatesSpark 1 I am creating my own NGS pipeline from illumina-fastq file to vcf. This is for pure learning purposes. When I run the following code everything is ok java -Xmx4000m “$javatmp” -jar “$picardpath” SortSam INPUT=/home/mdb1c20/my_onw_NGS_pipeline/files/sam/1.sam OUTPUT=/home/mdb1c20/my_onw_NGS_pipeline/files/bam/1_sorted.bam SORT_ORDER=coordinate COMPRESSION_LEVEL=5 java -Xmx4000m “$javatmp” -jar “$picardpath” MarkDuplicates INPUT=/home/mdb1c20/my_onw_NGS_pipeline/files/bam/1_sorted.bam…

Significance Some social insects exhibit split sex ratios, wherein a subset of colonies produce future queens and others produce males. This phenomenon spawned many influential theoretical studies and empirical tests, both of which have advanced our understanding of parent–offspring conflicts and the maintenance of cooperative breeding. However, previous studies assumed…

How to get the sample ID number to print with variant Information 0 Hello, I am very new to bioinformatics and I am working on analyzing a file. Using code: bcftools query -f ‘%CHROMt%POS[t%GTt]n’ Regiononly.vcf.gz Prints out the genotypes and one sample is showing heterozygous for the variant of interest….

In the NGS pipeline, why read are sorted before marking duplicates? 0 I am creating my own NGS pipeline (from Illumina fastq to vcf file). I am using best practices GATK and the pipeline already created in the clinical lab I am working. I have seen that the fastq is…

I have to correct and remove some fields in the info column of a VCF file. Pysam seems the logical choice, but I fail to write a new file. Adding SAMPLE to a pysam.VariantFile seems to be the issue. Any insight highly appreciated! Code import pysam import re def build_new_header(vcf_header:pysam.VariantHeader)…

This is a genomics pipeline to do a single germline sample variant-calling, adapted from GATK Best Practice Workflow. This workflow is a reference pipeline for using the Janis Python framework (pipelines assistant). Alignment: bwa-mem Variant-Calling: GATK HaplotypeCaller Outputs the final variants in the VCF format. Resources This pipeline has been…

VCF file generation from multiple samples fro PCA 0 I am trying to generate vcf file for 80 samples(human) and use it for pca. But when trying to get eigen vectors using plink it says genotyping rate is 0.12 and when i remove snps with missing data threshold all data…

VCF file generation from multiple samples fro PCA 0 I am trying to generate vcf file for 80 samples(human) and use it for pca. But when trying to get eigen vectors using plink it says genotyping rate is 0.12 and when i remove snps with missing data threshold all data…

How to Annotate human samples vcf with dbSNP for GRch38 version? 0 i am trying to annotate my 80 samples vcf file with dbsnp as mentioned in all dna analysis pipelines. I am new to bioinformatics. dbsnp human grch38 annotation vcf • 47 views Login before adding your answer. Read…

Hi everyone, I have received separate VCF files for multiple samples. I merged each sample into a single VCF file for each chromosome, and then sorted the resulting files using: bcftools merge -l ID_list.txt -r $chrom -O z -o ${chrom}_merged.vcf.gz bcftools sort ${chrom}_merged.vcf.gz -O z -o ${output}/${chrom}_sorted.vcf.gz I’ve pasted a…

sciclone iteration does not converge 1 Hello everyone: I have a problem when using sciclone. I extracted the relevant information needed by sciclone from the vcf file generated from the paired normal tumor data as input, and then the following problem has been encountered. I would like to ask whether…

vcf – Ensembl Variant Effect Predictor (VEP) issue during execution – Bioinformatics Stack Exchange …

Hi all, I am using Ensembl VEP (command line) to annotate a VCF I have. I am specifically looking for gnomAD allele frequencies, which is fairly straight forward to do, technically speaking. However, the data looks off in some cases. For example, when I pass in: 10 69408929 COSM3751912 A…

Hi all, I am using Ensembl VEP (command line) to annotate a VCF I have. I am specifically looking for gnomAD allele frequencies, which is fairly straight forward to do, technically speaking. However, the data looks off in some cases. For example, when I pass in: 10 69408929 COSM3751912 A…

Developing my own NGS pipeline 1 I am a trainee bioinformatician working in a genomics lab. For learning proposes I want to develop my own NGS pipeline (from fastq file to VCF file). it would be great if someone could please pass me links where I can step by step…

htsjdk.tribble.TribbleException: The provided VCF file is malformed 1 I have VCF files that I want to convert to a more readable TSV file using GATK VariantsToTable, and I also want to load in the VCF in IGV. However, when trying to do this, I get the same error for both…

There now also is a plugin in bcftools which does the split in a single pass over the multi-sample VCF/BCF file. It does not seem to be very fast, but looks correct and there are options to do the split in custom ways. You do need to install bcftools with…

Why does write.ped remove the first locus? 0 In order to get a VCF file from genind, I am going through hierfstat function write.ped() and then with plink I convert the result to vcf. This is my code (apologies, but I cannot provide a reproducible data for this particular scenario):…

Problem with vcf file columns 0 Hello. I’m having troubles with a vcf file I just generated with Stacks. The thing is that the column of the first sample (the first individual in my vcf file) instead of having the information about the genotype, the depth and other things, it…

VCF filters and variant intersection 0 Hi Guys, I am using joint genotyping method to generate multisample VCF file that involves variant calling, joint data aggregation and joint genotyping steps. I wonder about the filters which I need to apply to VCF. Which filters should I apply ?? I also…

I have genomic file. But it has different representation than usual 0 Recently I got access genomic data by an organization. It has .bgen file, so I converted it to vcf file by qctool. But it has different SNP representation than I used to. I used to SNP representation like…

Since the opening of the open-ended Call in February 2020 [30], Laniakea@ReCaS has accepted ten project proposals for a total of 18 Galaxy instances operating on the ReCaS infrastructure that altogether launched almost 30 k jobs, as of March 2021 (Fig. 3). Fig. 3 Cumulative number of jobs launched by all the…

No header in VCF file 0 Hello everyone, I am working with a specific variant calling pipeline, and the output is a VCF file missing headers. It seems there are no option to add the header in the output. Trying to add an header with picard FixVcfHeader, I get errors…

fuc.pyvcf Attribute Error 0 Hello, I try to extract GT information from FORMAT field in my .vcf file using fuc.pyvcf submodule. When I try to run my script: from fuc import pyvcf import pandas as pd vf = pyvcf.VcfFrame.from_file(‘P1_test.vcf’) vf.df vf.extract_format(‘GT’) I’ve got the error: Traceback (most recent call last):…

map files 0 Hi all, I am performing imputation using IMPUTE2. the reference file is a custom genotype vcf file extracted using the b37 build. will i need to provide a different genome map file for the custom set, or can I use the 1000genome data provided by IMPUTE2? and…

How to convert GEN or .gen format from impute.me to vcf on windows 10? 1 I tried for days to convert a gen file to vcf but it did not work. I am a beginner so i don’t know what are in vcf files and gen files or how they…

sciClone input vaf file? 3 Dear All, Hi, I want to use sciclone on our exome sequencing data. but one thing I can’t understand that is how can I got varCount equal to 0? I have no idea about this, following data i just grep from sciclone-meta-master manuscript figure3 data…

merge individual runs after bcftools mpileup | bcftools call 0 Hello! I am running bcftools mpileup | bcftools call for variant calling and I have no problems getting the output file when I run 1 or 2 samples. When I try all samples (~50), I get the error message: “Failed…

Splitting A Vcf File 7 Hi i downloaded a VCF file conatins multiple genome data(Muliple sample)> i want to split the VCF file to each geome file(VCF file with 1 geome). I diidnt find any script. if you have any please share with me vcf • 18k views I know…

How to import dosage information to plink binary files? 0 Hi All, I recently converted a very large Topmed imputed VCF files into a plink format. The command I used to convert this VCF was plink1.9 –vcf ${VCF} –make-bed –out ${VCF}_binary. Additionally, I also spent a significant amount of time…

Alelle frequency plot 1 Hi, I have to plot allele frequencies of two different SNP chip datasets. I have two VCF files and would like to make a scatterplot in which these 2 datasets are plotted one against each other. What is the easiest way to do this? I apologize…

Unknown genotypes (.) in VCF, but have supporting reads? 0 In a VCF created by HaplotypeCaller, with reads from two haploid samples, I have some entries in which one sample has a mutation but the other doesn’t, where as expected I see a 1 for one sample and a 0…

HaplotypeCaller calling mutations based on one read? 0 I’m using GATK HaplotypeCaller, via grenepipe, with the default options as specified by grenepipe except for -ploidy 1 as I am working with haploid yeast. I am seeing some mutations called based on one single read only if I am interpreting the…

GATK-Allele frequency 0 Hi Guys, I am running GATK on bam file for variant calling. In the output file, I noticed that the Allele frequency is computed as 0.5 and 1.00. What may be the reason for this? Is it calculated correctly? VCF Allele GATK frequency • 27 views Login…

I have a large dataset whose autosomes I was able to successfully phase and impute using TOPMed. I have tried doing the same with the X chromosome but keep running into issues. Before trying to impute with TOPMed, I did per-individual QC and per-marker QC, then ran checkVCF, and corrected…

Hello, I am trying to merge VCF files from several samples from different sequencing runs. I ran bcftools merge on the VCF files and after ten hours I got the error message “Incorrect number of FORMAT/GP values at chr_Y:216795, cannot merge. The tag is defined as Number=G, but found 2…

Hello, What is the meaning of lines that have only 4 GT values in an 8 ploidy VCF file? for example: 1/1/1/1:8:0,8:0:0:8:262 1/1/1/1:3:0,3:0:0:3:105 instead of 1/1/1/1/1/1/1/1:2:0,2:0:0:2:72 this is the command I used to create each one of the VCF files: freebayes -f $REF -p 8 $SORTED_BAM > $OUTPUT this is…

Calculate allele frequency from many VCF files in specific locus 1 Dear all, I have 100 VCF files (100 different samples). I would like to calculate allele frequency in specific sites. In one specific locus I have three genotypes (GATK best practices workflow): rs-xxxxx: A/A occurring in 30 samples (ref…

I have recently explored various alternatives to a similar problem and came away with the following potential solutions: Solution 1 The “easiest” to do this would be to generate a VCF variant file with a SNP calling tool, then transform that variant file into a tabular file with bcftools view….

Hi all I’m using VCFtools (v0.1.17) for estimating nucleotide diversity of my study species. I already got a VCF file which was made form mapping to a draft genome, then I used it to calculate pi value. As you can see, the output showed the bin size and variants(here, I…

Mappability calculation based on 150 bp reads after mapping with bwa 0 Hi, I am trying to apply some filters on whole exome sequencing data. Firstly I did the mapping using bwa and then I followed the proposed pipeline from GATK for Calling variants on cohorts of samples using the…

Calculating Allele Balance in GATK4 0 Hi All, I know GATK3 has option to compute Allele Balance and populate ABHet and ABHom fields. I do not see this option in GATK4. I used to run this command in GATK3: java ${JAVAOPTS} -jar /usr/local/genome/GATK-3.6-0/GenomeAnalysisTK.jar -T VariantAnnotator -A AlleleBalance -I AF1.vcf.gz -R…

Plink v2.0 does not produce a Z-compressed file (.zst) 0 Good morning, I would like to convert a merged VCF in a Plink compressed format (.pgen, .psam and .pvar files), so I run plink2 –vcf MyMerged.vcf.gz –make-pgen –zst-level 3 –out MySamples It basically works, as it produces such files: ls…

VCFTools error: Unrecognized values used for CHROM, Replacing with 0. 1 Hi all! I was trying to run VCFtools on .vcf output file from dDocent program (ddocent.wordpress.com/) and I get this error: Unrecognized values used for CHROM: E81_L257 –  Replacing with 0. I was wondering if anyone encountered that and…

bcftools error in variant calling chapter 1 Hi, I am reading through the variant calling chapter of biostar book and faced a problem at below step: # Compute the genotypes from the alignment file. bcftools mpileup -Ovu -f $REF $BAM > genotypes.vcf # Then I get this error: Could not…

Human Exome Variant Reference 3 Hi, I want to compare the variants for my WES analysis result using Illumina/hap.py. However I cant find the reference variants for the whole exome. I know that files (vcf, bed) in GiaB are usually used as reference variants, but I don’t know which file…

Hi! I tried to do what other posts reported and I have a problem that I do not fully understand why … 1) I downloaded the fastq files from Garvan (ftp-trace.ncbi.nlm.nih.gov/ReferenceSamples/giab/data/NA12878/Garvan_NA12878_HG001_HiSeq_Exome/) with the bed file. I had to convert the bed file to hg38 (my_regions) … as I understand it…

The Biostar Herald publishes user submitted links of bioinformatics relevance. It aims to provide a summary of interesting and relevant information you may have missed. You too can submit links here. This edition of the Herald was brought to you by contribution from Mensur Dlakic, Istvan Albert, GenoMax, and was…

Construction of the reference genome database (GCA_000001405.15_GRCh38) with snpeff 1 Dear colleagues I used the reference genome GRCh38 version GCA_000001405.15_GRCh38 / seqs_for_alignment_pipelines.ucsc_ids downloaded from ftp.ncbi.nlm.nih.gov/genomes/all/GCA/000/001/405/GCA_000001405.15_GRCh38/seqs_for_alignment_pipelines.ucsc_ids/ This version was used for alignment and variant calling, however, I wanted to annotate genetic variants by snpeff v5. I did not find this version…

Recreating QC of 1000 Genomes project – removing non overlapping SNPs 0 Hi everyone, I am attempting to recreate the the quality control analysis performed in the 1000 genomes project (tcag.ca/documents/tools/omni25_qcReport.pdf). I am fairly new to performing QC on a dataset, and am currently stuck on section 5.1 of the…

How can I obtain genotypes from .bams of RNAseq data? 0 Hi all, I am hoping to run an allele specific expression analysis on a set of RNAseq samples I have. I need to obtain the genotypes for all samples to determine heterozygosity of each variant which is needed for…

pooled-heterozygosity calculation 0 As Rubin et al, one method of selection signature identification in a genome-scale study is pooled heterozygosity (Hp) calculation. “Hp = 2ƩnMAJƩnMIN/( ƩnMAJ + ƩnMIN)^2, where nMAJ and nMIN are the numbers of reads corresponding to the most and least abundant allele, respectively, the sum of theses…

Missing some predictions based on dbNSFP v4.2a 0 Hello everybody, I used dbNSFP v4.2a database for functional prediction and variant annotation. As mentioned in the download site sites.google.com/site/jpopgen/dbNSFP, this version compiles prediction scores from several prediction algorithms (SIFT, SIFT4G, Polyphen2-HDIV, Polyphen2-HVAR. ….), and other information, including allele frequencies observed in…