SomaticIndelDetector statistics

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Citations per year

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Protocols

SomaticIndelDetector specifications

Information


Unique identifier OMICS_00091
Name SomaticIndelDetector
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained No

Versioning


No version available

SomaticIndelDetector citations

 (26)
library_books

The molecular landscape of synchronous colorectal cancer reveals genetic heterogeneity

2018
PMCID: 5932564
PMID: 29546405
DOI: 10.1093/carcin/bgy040

[…] gap-aligned reads, mutations should not be significantly enriched within 5 bp of 5′ or 3′ ends of the reads and mutations should not be in simple repeat region. Somatic indels were predicted by GATK SomaticIndelDetector with default parameters. Then, we used our own pipeline to obtain high-confidence somatic indels, as following: combined normal and tumour bam were reused to perform local realign […]

library_books

Mutational signatures and chromosome alteration profiles of squamous cell carcinomas of the vulva

2018
PMCID: 5903820
PMID: 29422544
DOI: 10.1038/emm.2017.265

[…] sing and management of marking duplicates, including local realignments and score recalibration. Somatic mutations were detected by comparing tumor and matched normal sequencing data using MuTect and SomaticIndelDetector for point mutations and indels, respectively. ANNOVAR (Annotate Variation) was used for the functional annotation of each variant in the coding regions. PolyPhen-2 was used to pre […]

library_books

The asymmetrically segregating lncRNA cherub is required for transforming stem cells into malignant cells

2018
eLife
PMCID: 5871330
PMID: 29580384
DOI: 10.7554/eLife.31347.034

[…] me and remerged with Picard tools. Summary statistics were computed with GATK (). Somatic point mutations were identified with MuTect (v1.1.4) (). InDels (strand.bias = TRUE) were identified with the SomaticIndelDetector of GATK. Variants were characterized with SnpEff (v3.2a) (). For coverage plots, reads were counted in genomic bins and normalized by the median. The foldchange and coverage were […]

call_split

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations

2017
Oncotarget
PMCID: 5707039
PMID: 29221145
DOI: 10.18632/oncotarget.20764
call_split See protocol

[…] tion analysis for single nucleotide variants (SNV) was performed using MuTect v1.1.4 and annotated by Variant Effect Predictor (VEP) [, ]. Insertions and deletions were called using Indel Locator and SomaticIndelDetector tool [, ]. MuTect was run in paired mode using a CEPH sample as a normal since normal DNA samples were not available, and a germline variant filter was then applied. Variants were […]

call_split

Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report

2017
Oncotarget
PMCID: 5655321
PMID: 29113426
DOI: 10.18632/oncotarget.20700
call_split See protocol

[…] performed on tumor sample and control normals to identify point mutations/single nucleotide variants (SNVs) and small insertions/deletion (indels). MuTect (version 1.1.4) was used for SNV calling and SomaticIndelDetector, a tool in GATKv.2.3.9, was used for detecting indel events. Variants were subsequently annotated using Annovar, and annotations relative to the canonical transcript for each gene […]

library_books

Genomic profiles of a hepatoblastoma from a patient with Beckwith Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2

2017
Oncotarget
PMCID: 5696154
PMID: 29190888
DOI: 10.18632/oncotarget.20515

[…] Mean coverage of the WES depth was 101X for tumor genome and 54X for normal, with an average of 93% of bases covered by at least 10 reads. After calling somatic mutations using MuTect and SomaticIndelDetector with default parameters, reads less than 20 were filtered out. After the filtering process, a total of 15 somatic mutations (12 point mutations and three indels) were called (), c […]


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