I'm a first time samtools user. I am using the mpileup command for somatic mutation calling between a pair of samples. I generate an output file: var.bcf, but I don't know how to open/extract the data from the file. Is there a comprehensive user guide somewhere with examples/tutorials how to use this tool? I've been to http://samtools.sourceforge.net/samtools.shtml but it is no where near detailed enough for my level of experience with this tool. Thank you in advance for any insight.
Unconfigured Ad
Collapse
X
-
Thank you. I did figure out how to view the file, the interpretation is the issue. It looks like a lot oh headers but no data:
##fileformat=VCFv4.1
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth">
##INFO=<ID=DP4,Number=4,Type=Integer,Description="# high-quality ref-forward bases, ref-reverse, alt-forward and alt-reverse bases">
##INFO=<ID=MQ,Number=1,Type=Integer,Description="Root-mean-square mapping quality of covering reads">
##INFO=<ID=FQ,Number=1,Type=Float,Description="Phred probability of all samples being the same">
##INFO=<ID=AF1,Number=1,Type=Float,Description="Max-likelihood estimate of the first ALT allele frequency (assuming HWE)">
##INFO=<ID=AC1,Number=1,Type=Float,Description="Max-likelihood estimate of the first ALT allele count (no HWE assumption)">
##INFO=<ID=G3,Number=3,Type=Float,Description="ML estimate of genotype frequencies">
##INFO=<ID=HWE,Number=1,Type=Float,Description="Chi^2 based HWE test P-value based on G3">
##INFO=<ID=CLR,Number=1,Type=Integer,Description="Log ratio of genotype likelihoods with and without the constraint">
##INFO=<ID=UGT,Number=1,Type=String,Description="The most probable unconstrained genotype configuration in the trio">
##INFO=<ID=CGT,Number=1,Type=String,Description="The most probable constrained genotype configuration in the trio">
##INFO=<ID=PV4,Number=4,Type=Float,Description="P-values for strand bias, baseQ bias, mapQ bias and tail distance bias">
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL.">
##INFO=<ID=PC2,Number=2,Type=Integer,Description="Phred probability of the nonRef allele frequency in group1 samples being larger (,smaller) than in group2.">
##INFO=<ID=PCHI2,Number=1,Type=Float,Description="Posterior weighted chi^2 P-value for testing the association between group1 and group2 samples.">
##INFO=<ID=QCHI2,Number=1,Type=Integer,Description="Phred scaled PCHI2.">
##INFO=<ID=PR,Number=1,Type=Integer,Description="# permutations yielding a smaller PCHI2.">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GL,Number=3,Type=Float,Description="Likelihoods for RR,RA,AA genotypes (R=ref,A=alt)">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="# high-quality bases">
##FORMAT=<ID=SP,Number=1,Type=Integer,Description="Phred-scaled strand bias P-value">
##FORMAT=<ID=PL,Number=-1,Type=Integer,Description="List of Phred-scaled genotype likelihoods, number of values is (#ALT+1)*(#ALT+2)/2">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT
Not sure what I did wrong. The mplieup command I used was:
samtools mpileup -DSuf ref.fa aln.bam | bcftools view -bvcgT pair - > var.bcf (inclded my filepaths/names of course)
Comment
Latest Articles
Collapse
-
by SEQadmin2
Tumors contain complex mixtures of cell populations that evolve in response to treatment and host-specific factors. Tissue biopsies provide only static snapshots of a tumor’s state. But what if we could follow that evolution over time using a minimally invasive technique?
Liquid biopsies can detect tumor-derived material circulating in the bloodstream, providing a way to study treatment response, detect emerging resistance, and discover new biomarkers. Circulating...-
Channel: Articles
10-14-2026, 09:55 AM -
-
by SEQadmin2
Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.
We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing...-
Channel: Articles
-
ad_right_rmr
Collapse
News
Collapse
| Topics | Statistics | Last Post | ||
|---|---|---|---|---|
|
Started by SEQadmin2, 10-22-2026, 11:13 AM
|
0 responses
22 views
0 reactions
|
Last Post
by SEQadmin2
10-22-2026, 11:13 AM
|
||
|
Started by SEQadmin2, 10-22-2026, 10:48 AM
|
0 responses
19 views
0 reactions
|
Last Post
by SEQadmin2
10-22-2026, 10:48 AM
|
||
|
Started by SEQadmin2, 10-15-2026, 10:52 AM
|
0 responses
36 views
0 reactions
|
Last Post
by SEQadmin2
10-15-2026, 10:52 AM
|
||
|
Started by SEQadmin2, 10-14-2026, 05:39 AM
|
0 responses
42 views
0 reactions
|
Last Post
by SEQadmin2
10-14-2026, 05:39 AM
|
Comment