V-Phaser 2.0 / V-Profiler 1.0 – Variant Calling and Visualization tools to Identify Biological Mutations in Diverse populations

V-Phaser 2.0 / V-Profiler 1.0

:: DESCRIPTION

V-Phaser is a tool to call variants in genetically heterogeneous populations from ultra-deep sequence data. V-Phaser combines information regarding the covariation (i.e. phasing) between observed variants to increase sensitivity and an expectation maximization algorithm that iteratively recalibrates base quality scores to increase specificity.

V-Profiler takes a read alignment and a list of accepted variants at each location in the alignment (such as would be generated by V-Phaser) and analyzes the intra-host diversity of a genome. This can be done at the nucleotide level over the whole sequence, at the codon level for each gene specified in a list, and at the haplotype level for any region delimited (note that the region must not exceed a read length, and is preferably of shorter length such as an epitope or a loop of interest).

::DEVELOPER

Computational R&D, The Broad Institute, Cambridge, MA

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

 V-Phaser  / V-Profiler

:: MORE INFORMATION

Citation

BMC Genomics. 2013 Oct 3;14:674. doi: 10.1186/1471-2164-14-674.
V-Phaser 2: variant inference for viral populations.
Yang X, Charlebois P, Macalalad A, Henn MR, Zody MC.

PLoS Comput Biol. 2012;8(3):e1002417. doi: 10.1371/journal.pcbi.1002417. Epub 2012 Mar 15.
Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data.
Macalalad AR, Zody MC, Charlebois P, Lennon NJ, Newman RM, Malboeuf CM, Ryan EM, Boutwell CL, Power KA, Brackney DE, Pesko KN, Levin JZ, Ebel GD, Allen TM, Birren BW, Henn MR.

GLnexus v1.4.1 – Scalable Joint Variant Calling

GLnexus v1.4.1

:: DESCRIPTION

GLnexus is an open-source cohort-calling method that uses the highly-accurate caller DeepVariant and scalable merging tool.

::DEVELOPER

Mike Lin

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux

:: DOWNLOAD

GLnexus

:: MORE INFORMATION

Citation

Yun T, Li H, Chang PC, Lin MF, Carroll A, McLean CY.
Accurate, scalable cohort variant calls using DeepVariant and GLnexus.
Bioinformatics. 2021 Jan 5;36(24):5582–9. doi: 10.1093/bioinformatics/btaa1081. Epub ahead of print. PMID: 33399819; PMCID: PMC8023681.

KvarQ 0.12.2 – Targeted and direct Variant Calling in FastQ reads of Bacterial Genomes

KvarQ 0.12.2

:: DESCRIPTION

The program KvarQ performs rapid in silico genotyping for selected loci (e.g. phylogenetic SNPs, drug resistance mutations) in bacterial genome sequences in FastQ format. Mapping to a whole-genome reference sequence or de novo assembly or the short reads is not necessary.

::DEVELOPER

KvarQ team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX

:: DOWNLOAD

 KvarQ

:: MORE INFORMATION

Citation

BMC Genomics. 2014 Oct 9;15(1):881. doi: 10.1186/1471-2164-15-881.
KvarQ: targeted and direct variant calling from fastq reads of bacterial genomes.
Steiner A, Stucki D, Coscolla M, Borrell S, Gagneux S

SMaSH 1.0 – A Benchmarking Toolkit for Variant Calling

SMaSH 1.0

:: DESCRIPTION

SMaSH is a benchmarking methodology for evaluating germline variant calling algorithms.

::DEVELOPER

SMaSH team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Python

:: DOWNLOAD

 SMaSH

:: MORE INFORMATION

Citation:

SMASH: A Benchmarking Toolkit for Human Genome Variant Calling.
Talwalkar A, Liptrap J, Newcomb J, Hartl C, Terhorst J, Curtis K, Bresler M, Song YS, Jordan MI, Patterson D.
Bioinformatics. 2014 Jun 3. pii: btu345.

elPrep 5.0.2 – High-Performance Preparation of Sequence Alignment/Map Files for Variant Calling

elPrep 5.0.2

:: DESCRIPTION

elPrep is a high-performance tool for preparing .sam/.bam/.cram files for variant calling in sequencing pipelines.It can be used as a drop-in replacement for SAMtools/Picard, and was extensively tested with different pipelines for variant analysis with GATK.

::DEVELOPER

The Exascience Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Python

:: DOWNLOAD

 elPrep

:: MORE INFORMATION

Citation

PLoS One. 2015 Jul 16;10(7):e0132868. doi: 10.1371/journal.pone.0132868. eCollection 2015.
elPrep: High-Performance Preparation of Sequence Alignment/Map Files for Variant Calling.
Herzeel C, Costanza P, Decap D, Fostier J, Reumers J

LocHap 2.0 – Local-Haplotype Variant Calling Software

LocHap 2.0

:: DESCRIPTION

LocHap is an ultra-fast computational pipeline for calling local haplotype variant using deep DNA-sequencing data to reveal cellular heterogeneity and somatic mosaicism.

::DEVELOPER

Yuan Ji Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / MacOsX
  • C++ Compiler

:: DOWNLOAD

 LocHap

:: MORE INFORMATION

Citation

Sengupta S, Gulukota K, Zhu Y, Ober C, Naughton K, Wentworth-Sheilds W, Ji Y.
Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples.
Nucleic Acids Res. 2016 Feb 18;44(3):e25. doi: 10.1093/nar/gkv953. Epub 2015 Sep 29. PMID: 26420835; PMCID: PMC4756850.

SeqMule 1.2.6 – Automated Pipeline for Variant Calling from FASTQ files

SeqMule 1.2.6

:: DESCRIPTION

SeqMule is an automated pipeline to generate variant calls from FASTQ or BAM files, using more than 10 popular alignment and variant calling tools.

::DEVELOPER

Wang Genomics Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • R
  • Java

:: DOWNLOAD

 SeqMule

:: MORE INFORMATION

Citation

SeqMule: automated pipeline for analysis of human exome/genome sequencing data.
Guo Y, Ding X, Shen Y, Lyon GJ, Wang K.
Sci Rep. 2015 Sep 18;5:14283. doi: 10.1038/srep14283.