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Questions tagged [snp]

Single Nucleotide Polymorphisms. How to find them? How to correlate them with other data? How to represent them? What is their distribution?

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GBS- 'Failure' in, Per base sequence content, Sequence Duplication Levels, and Adapter Content

I have a GBS sequence on the Illumina platform that in the FASTQC quality report has “Failure” in : Per tile sequence quality, Per base sequence content, Sequence Duplication Levels and Adapter ...
Gabriela Carvalho da Silva's user avatar
1 vote
1 answer
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Approach for manually adding genotype of two SNPs to plink files for 350 people?

I have a data set of ~350 humans, genotyped on an Illumina. I have bed, bim, and fam files for them. Because of difficulty genotyping them, the genotyping does not include rs7412 or rs429358. However,...
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SNP Signatures with Limited WGS Data:

On 80 WGS samples, I'm dissecting SNP signatures linked to milk production in a scarcely studied animal. Post-variant calling and QC association analysis have been tricky. I'm here to tap into our ...
M.Bioinfo's user avatar
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2 votes
1 answer
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How should multi allelic sites be handled in calculation per site Fst?

I'd like to calculate per site Fst(fixation index) to investigate genomic differentiation between two populations(haploid). I did SNP calling and got vcf file. In the vcf file, multi allelic sites ...
uri's user avatar
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2 votes
0 answers
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Different ClinVar classifications/SNPs are linked to the same rsid

I am using R to extract ClinVar classification of SNPs using rsid. Here's an example of my workflow: Patient data: Sample Func Gene Codon_Change dbSNPv151_GRCh38 Chr Start End Ref Obs Mary ...
benson23's user avatar
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2 votes
1 answer
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Does using a microarray chip that matches the chip used in training lead to higher explained variance of a polygenic score?

I'm trying to replicate an existing polygenic score (i.e. test the accuracy in a new sample), and want to know if matching the original study's microarray chip will improve the accuracy (that is, ...
BigMistake's user avatar
1 vote
0 answers
59 views

SNP How to detect regions of erratic pairwise alignment?

I have clusters of DNA sequences that contain some mutations. All the sequences in a cluster should contain the same mutations. As the mutations aren't known, those clusters of sequences were pairwise-...
Fravadona's user avatar
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2 answers
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Why does my HWE QQ plot have extreme deviation and what does it mean?

This question was also asked on Reddit I have recently completed my thesis and one of the comments was that I report on why this graph looks this way. I have tried to find a reason but the closest I ...
Shelby Labuschagne's user avatar
2 votes
0 answers
24 views

Feasible to find genetic variations of two samples using RNAseq data?

I have bulk RNAseq data from two strains of mice from Jackson Lab: C57BL/6 and B6.SJL. The former expresses a Ptprc-b allele and the latter expresses a ...
geom_na's user avatar
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Extracting information from VCF file for many specific positions in specific chromosomes?

I have an excel file that I created from VCF file for common SNPs across 6 samples. This excel have the chromosomes and the position of the SNPs only (see example table1) Now I would like to obtain ...
Mohamed Samir's user avatar
1 vote
1 answer
243 views

Getting VCF file that contain common SNPs from 6 VCF file using isec

I have 6 VCF files, where I would like to obtain the SNPs that are common (by position) in all the 6 files. I have tried this command ...
Mohamed Samir's user avatar
2 votes
0 answers
22 views

How do you go about grabbing proper genotyping infomation from dbSNP using entrez API?

I made an R function to grab rsID genotypes from dbSNP using the entrez API. For example, here is the xml output that I am trying to parse: https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=...
Blaze9's user avatar
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2 votes
2 answers
141 views

How can I detect the Apo B gene mutations in my raw dna data?

Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder associated with increased plasma cholesterol concentration and may thus increase the risk of premature coronary heart ...
Paweł Gościcki's user avatar
3 votes
3 answers
137 views

When it is stated in your consumer genetics testing report that you have x% (lets say 1.3 percent...) Neanderthal DNA, what is actually meant?

This question has also been asked on Biology SE When a raw number like 1.3 percent is stated, it is confusing without context,and can be misinterpreted. So does 1.3 percent mean that 1.3 percent of ...
Sanjay Biswas's user avatar
0 votes
4 answers
267 views

Can you infer orientation from vcf file data?

I have a dante labs dataset that I would like to cross reference with SNPedia but I am unclear about orientation. I've read the info on SNPedia and other places about it but I just don't get it yet. I ...
Pete's user avatar
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-1 votes
1 answer
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Variants list to aminoacids

I have the sequencing data of a Monkeypox virus sample. I have the list of variants extracted from Nextclade and I want to find the corresponding aminoacids substitution. For example I have the ...
Denise Lavezzari's user avatar
0 votes
1 answer
60 views

Help with analyzing SNP data for three patient groups

I am currently working on a project where I have genetic data for patients classified into three different groups. Specifically, I have information on 26 SNPs for each patient. I have recorded each ...
Ismael Prieto's user avatar
0 votes
0 answers
60 views

SKAT method in R

I have data that looks like this: 3 column SNPs their gene based on Annovar and a p-value for every SNP. What I would like is to aggregate the p values for every gene. ...
liza's user avatar
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1 vote
0 answers
44 views

Project PLINK eigenvector from one group on top of another group

I have 1 .bcf file called with individuals from two groups, one which is my samples, another which is a reference panel. Due to my samples having a limited amount ...
RAHenriksen's user avatar
1 vote
1 answer
217 views

Converting a Dante Lab VCF file

Is there an easy way to grab the rsids (hg38) of a VCF file? I know one of the tabs can contain RSIDs, but this file doesn't contain any. I have a software I created for mapping 23AndMe DTC testing to ...
Shay Maor's user avatar
2 votes
1 answer
478 views

Getting nearest gene from SNP data using SNP ID, CHR, and BP

I have data from a GWAS that provides me with the SNP, Chromosome, and base-pair. My data set has thousands of SNPs. What is the easiest way to find the nearest gene for each SNP using this ...
cjsterne's user avatar
2 votes
1 answer
195 views

Arlequin - How to assign samples to populations?

I have converted a VCF file to the arlequin file format. It consists of 20 samples that should belong to three populations, along with a few thousands SNPs. However, when I load the arlequin file into ...
John's user avatar
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1 vote
1 answer
784 views

Retrieve rsIDs from chromosome positions using MRutils::get_rsid_from_position

I have 5609 chromosome positions with both ref and alt alleles. I want to retrieve rsIDs for the same. I tried get_rsid_from_position() of the ...
Jyoti Sharma 's user avatar
2 votes
2 answers
58 views

VCF: false insertions?

I'm working with gvcf files, containing also non-variant positions. I have noticed some insertions that I'm not able to correctly interpret or handle. An example (selected samples from a huge vcf): <...
Jos's user avatar
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0 votes
1 answer
188 views

Maintaining SNP names when calculating allele frequencies from a VCF file on plink 1.9

I downloaded the following vcf file from https://www.internationalgenome.org/. http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/release/20130502/ALL.chr22.phase3_shapeit2_mvncall_integrated_v5b.20130502....
Shreyas Arashanapalli's user avatar
0 votes
1 answer
48 views

SNPs location out side the gene

I downloaded exome data from gnomad to get the allele frequency of some SNPs that I'm analyzing. The SNPs are from external resource. Some SNPs (in my data) are not present in the exome data (in ...
Eliza Romanski's user avatar
2 votes
1 answer
881 views

Compare VCF files

I have two strains, X and Y, and I would like to compare the variants found in both. I have my own parent strain, Z, that was sequenced and assembled to be used as the reference genome. I first ...
rimo's user avatar
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4 votes
1 answer
124 views

Find SNPs in yeast genomes

I'm a new Bioinformatic scientist working for a yeast genetics company. Objective To create a database of yeast genomes from NCBI and identify SNP variants. In my pipeline FastQC, Trimmomatic, BWA ...
rimo's user avatar
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2 votes
0 answers
104 views

SNPs with high population differentiation from 1k Genome dataset

I am trying to reproduce the results from this paper "Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences". ...
koolaids's user avatar
1 vote
0 answers
124 views

Converting from VCF to PLINK while maintaining the SNP names from the VCF file

Just as the title says, I am working in PLINK 1.9 trying to convert the following VCF into a PLINK file (binary or not either is fine), while maintaining the SNP names from the VCF file. I am on ...
Shreyas Arashanapalli's user avatar
2 votes
1 answer
64 views

What tool I can use to map short-reads sequences to reference genome and get specific mapped size

I have about 300 90-bp sequences which I would like to map to a reference genome to make it longer to a 300bp sequence, wherein the 90bp is at the middle. Anyone knows what bioinformatics tool I can ...
Umi Rayearth's user avatar
1 vote
0 answers
53 views

Weird data in VCF file

I am using GATK HaploTypeCaller for SNP calling. I have 300 samples. As far as I understand that if a sample is missing a SNP it should be denoted by ./., however, I am getting a lot of values like 0/...
Mahmood Hasan's user avatar
0 votes
2 answers
54 views

BAM files with no RNAME and POS, how to map contents to SNPs?

I have a set of 4 .bam files containing the exome of an individual, around 400 MB each. I used samtools to generate a 2.4 GB .sam file out of one of the .bam files, and I found it contains lines with ...
Fernando D'Andrea's user avatar
3 votes
1 answer
80 views

Imputing small region of the genome

If I'm looking for a specific SNP in my SNP-Chip data and it isn't there, are there any tools that let me quickly impute that SNP from surrounding SNPs rather than running a lengthy 'whole chromosome' ...
Dan Bolser's user avatar
1 vote
1 answer
77 views

Reference variant detected as altered one in bam file

I received (from manufacturer) several .bam files and I used four callers (samtools, freebayes, haplotypecaller, deepvariant) to find some sequence variants. In obtained .vcf files, I took a closer ...
Adamm's user avatar
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0 votes
1 answer
84 views

Regression plot of a continuous trait - is there a binary equivalent?

Within the GWAS wikipedia page, you can view the following plot: "Illustration of a simulated genotype by phenotype regression for a single SNP. Each dot represents an individual. A GWAS of a ...
icedcoffee's user avatar
1 vote
0 answers
37 views

RNAseq SNP discovery: deciding upon filters and dealing with allele expression bias

I am working with non-model plant RNA samples which we have been deep sequenced and analysed using STAR aligner under default parameters. Aim We would like to conduct SNP discovery of these samples. ...
Tom's user avatar
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2 votes
2 answers
117 views

Confusing result from Sanger Imputation Service (Eagle v2.4 for phasing, PBWT v3.1 for imputation)

I ran my 23andMe data through the Sanger Imputation Service that uses Eagle v2.4 for phasing, PBWT v3.1 for imputation. However, some aspects of the results are very confusing to me. Perhaps see #3 (...
Dan Bolser's user avatar
2 votes
0 answers
185 views

Assess ploidy estimation through SNV and CNV results

I want to assess ploidy estimation (i.e., diploid vs tetraploid) in a set of samples for which I have both results from the variant caller (i.e., SNVs) and from the copy number caller. What are the ...
gc5's user avatar
  • 1,813
3 votes
1 answer
40 views

SNPs in LD in which populations?

I have 3 SNPs that are in LD in 'several' populations here: https://www.ebi.ac.uk/gwas/variants/rs13078854#ld_panel_label It's a pain to look at all (30) populations one by one to manually check if ...
Dan Bolser's user avatar
1 vote
1 answer
1k views

Filtering a vcf with a text file of SNP rsIDs

I have a vcf file containing an ID field with a snps and a list of human SNPs from dbSNP.I want to remove whatever in dbSNP from vcf file. The text file is like this: ...
Zizogolu's user avatar
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-3 votes
1 answer
616 views

Extracting a column from a vcf file

I have a zipped vcf file of dbSNP hg38 version No space left on my device to unzip that I want to extract a column from that I have tried this ...
Zizogolu's user avatar
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1 vote
1 answer
612 views

imputed dosage values for vcf files

I have one more question related to genotype file. I submitted the job in michigan imputation server. and my imputed dosage for chr 22 file is: 22 16050435 22:16050435:T:C T C . PASS AF=0.00098;MAF=0....
Rhea Bedi's user avatar
0 votes
2 answers
155 views

VCF file inspector app with GUI

Does anyone know a good, free-to-use VCF file inspector app (Mac OS, with GUI) where I can browse the content of a VCF file similarly to bamseek*? I would like to browse SNP annotation split by ...
bud.dugong's user avatar
1 vote
0 answers
42 views

How to split genotypes into two groups from a SNP txt file contains -1, 0 and 1 in R?

I have a SNP file(it is 96 obs. of 1178 variables with -1, 1 and 0 and in some places NA) and I need to calculate Jaccard genetic distance from them in R. Is there any way to convert these 3 values to ...
coxtheparadox's user avatar
0 votes
2 answers
180 views

HG19 Position meaning

I am looking at genomic data (HG19). I have many SNPs, their chromosomes and positions. I want to look at certain SNP (suppose its chromosome is 1 and position 77,226,919), and extract all SNPs in ...
Kozolovska's user avatar
1 vote
1 answer
65 views

Given SNP-Chip data for a population, what tool should I use to reconstruct haplotypes?

I think Eagle or haploSep will do the job of reconstructing haplotype data, but I'm not sure what the 'standard' or best practice tool to use is. I have a VCF/PLINK format file of ~8,000 individuals ...
Dan Bolser's user avatar
0 votes
1 answer
40 views

What to use to determine SNPs in a population? How to find significant SNP variation between generations?

I have a population in the hundreds and did an Illumina pool-seq (ended up with ~100bp reads for the whole population). I have the reference genome for the species and now need to align all the ...
gl00ten's user avatar
  • 249
0 votes
0 answers
79 views

Combine all alternate alleles

I have a vcf with multi-allelic SNPs, e.g. REF: A and ALT: G, C. I would like to combine all reference alleles to the most ...
R S's user avatar
  • 101
1 vote
0 answers
286 views

Extract read names and the associated nucleotides on specific positions from a BAM file (in R)

Let's assume I have a BAM file and several positions that I would like to examine more closely in this alignment. My goal is to find out whether these positions are on the same reads and which ...
wejt's user avatar
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