dindel1
Finds of insertions and deletions from short nucleotide sequences
Overview
[Required] :
-
--ref arg -
fasta reference sequence (should be indexed with .fai file)
-
--outputFile arg -
file-prefix for output results
[Required] Program option:
--analysisarg (=indels) Analysis type:-
getCIGARindels: Extract indels from CIGARs of mapped reads, and infer library insert size distributions indels: infer indels realignCandidates: Realign/reposition candidates in candidate file
[Required] BAM input. Choose one of the following:
-
--bamFile arg -
read alignment file (should be indexed)
-
--bamFiles arg -
file containing filepaths for BAMs to be jointly analysed (not possible for
--analysis==indels
[Required for analysis == getCIGARindels]: Region to be considered for extraction of candidate indels.:
-
--region arg -
region to be analysed in format start-end, eg. 1000-2000
-
--tid arg -
target sequence (eg 'X')
[Required for analysis == indels]:
-
--varFile arg -
file with candidate variants to be tested.
-
--varFileIsOneBased -
coordinates in varFile are one-based
Output options:
-
--outputRealignedBAM -
output BAM file with realigned reads
--processRealignedBAMarg ABSOLUTE path to script to process realigned BAM-
file
-
--quiet -
quiet output
parameters for analysis==indels option:
-
--doDiploid -
analyze data assuming a diploid sequence
-
--doPooled -
estimate haplotype frequencies using Bayesian EM algorithm. May be applied to single individual and pools.
General algorithm parameters:
-
--faster -
use faster but less accurate ungapped read-haplotype alignment model
-
--filterHaplotypes -
prefilter haplotypes based on coverage
|
#bases of reference sequence of indel region |
|---|---|
|
max number of mismatches in indel region |
|
prior probability of a SNP site |
|
prior probability of a detected indel not being a sequencing error |
|
number of bases to left and right of indel |
|
maximum number of haplotypes in likelihood computation |
|
maximum number of reads in likelihood computation |
|
lower limit for read mapping quality |
|
upper limit for read mapping quality in observationmodel_old (phred units) |
|
cap mapping quality in alignment using fast ungapped method |
|
(WARNING: setting it too high (>50) |
|
|
might result in significant overcalling!) |
|
|
skip computation if number of haplotypes exceeds this number |
|
minimum overlap between read and haplotype |
|
maximum length of reads |
|
minimum number of WS observations of indel |
|
skip if product of number of reads and haplotypes exceeds this value |
-
--changeINStoN -
change sequence of inserted sequence to 'N', so that no penalty is incurred if a read mismatches the inserted sequence
parameters for --pooled option:
|
Dirichlet a0 parameter haplotype frequency prior |
|---|---|
|
singlevariant or priorpersite) |
General algorithm filtering options:
--checkAllCIGARs arg (=1) include all indels at the position of the call site
-
--filterReadAux arg -
match string for exclusion of reads based on auxilary information
Observation model parameters:
|
probability of a read indel |
|---|---|
|
probability of a mutation in the read |
|
maximum length of a _sequencing error_ indel in read [not for |
Library options:
-
--libFile arg -
file with library insert histograms (as generated by
--analysisgetCIGARindels)
Misc results analysis options:
-
--compareReadHap -
compare likelihood differences in reads against haplotypes
--compareReadHapThreshold arg (=0.5) difference threshold for viewing
-
--showEmpirical -
show empirical distribution over nucleotides
-
--showCandHap -
show candidate haplotypes for fast method
-
--showHapAlignments -
show for each haplotype which reads map to it
-
--showReads -
show reads
--inferenceMethodarg (=empirical)-
inference method
-
--opl -
output likelihoods for every read and haplotype
[Required] :
-
--ref arg -
fasta reference sequence (should be indexed with .fai file)
-
--outputFile arg -
file-prefix for output results
[Required] Program option:
--analysisarg (=indels) Analysis type:-
getCIGARindels: Extract indels from CIGARs of mapped reads, and infer library insert size distributions indels: infer indels realignCandidates: Realign/reposition candidates in candidate file
[Required] BAM input. Choose one of the following:
-
--bamFile arg -
read alignment file (should be indexed)
-
--bamFiles arg -
file containing filepaths for BAMs to be jointly analysed (not possible for
--analysis==indels
[Required for analysis == getCIGARindels]: Region to be considered for extraction of candidate indels.:
-
--region arg -
region to be analysed in format start-end, eg. 1000-2000
-
--tid arg -
target sequence (eg 'X')
[Required for analysis == indels]:
-
--varFile arg -
file with candidate variants to be tested.
-
--varFileIsOneBased -
coordinates in varFile are one-based
Output options:
-
--outputRealignedBAM -
output BAM file with realigned reads
--processRealignedBAMarg ABSOLUTE path to script to process realigned BAM-
file
-
--quiet -
quiet output
parameters for analysis==indels option:
-
--doDiploid -
analyze data assuming a diploid sequence
-
--doPooled -
estimate haplotype frequencies using Bayesian EM algorithm. May be applied to single individual and pools.
General algorithm parameters:
-
--faster -
use faster but less accurate ungapped read-haplotype alignment model
-
--filterHaplotypes -
prefilter haplotypes based on coverage
|
#bases of reference sequence of indel region |
|---|---|
|
max number of mismatches in indel region |
|
prior probability of a SNP site |
|
prior probability of a detected indel not being a sequencing error |
|
number of bases to left and right of indel |
|
maximum number of haplotypes in likelihood computation |
|
maximum number of reads in likelihood computation |
|
lower limit for read mapping quality |
|
upper limit for read mapping quality in observationmodel_old (phred units) |
|
cap mapping quality in alignment using fast ungapped method |
|
(WARNING: setting it too high (>50) |
|
|
might result in significant overcalling!) |
|
|
skip computation if number of haplotypes exceeds this number |
|
minimum overlap between read and haplotype |
|
maximum length of reads |
|
minimum number of WS observations of indel |
|
skip if product of number of reads and haplotypes exceeds this value |
-
--changeINStoN -
change sequence of inserted sequence to 'N', so that no penalty is incurred if a read mismatches the inserted sequence
parameters for --pooled option:
|
Dirichlet a0 parameter haplotype frequency prior |
|---|---|
|
singlevariant or priorpersite) |
General algorithm filtering options:
--checkAllCIGARs arg (=1) include all indels at the position of the call site
-
--filterReadAux arg -
match string for exclusion of reads based on auxilary information
Observation model parameters:
|
probability of a read indel |
|---|---|
|
probability of a mutation in the read |
|
maximum length of a _sequencing error_ indel in read [not for |
Library options:
-
--libFile arg -
file with library insert histograms (as generated by
--analysisgetCIGARindels)
Misc results analysis options:
-
--compareReadHap -
compare likelihood differences in reads against haplotypes
--compareReadHapThreshold arg (=0.5) difference threshold for viewing
-
--showEmpirical -
show empirical distribution over nucleotides
-
--showCandHap -
show candidate haplotypes for fast method
-
--showHapAlignments -
show for each haplotype which reads map to it
-
--showReads -
show reads
--inferenceMethodarg (=empirical)-
inference method
-
--opl -
output likelihoods for every read and haplotype
Releases
Unchanged in 2 releases since Debian 9 (Stretch).