BOL: Related items

Beagle

Jit — Thu, 27 Oct 2016 11:19:00 -0500

Beagle is a software package that performs genotype calling, genotype phasing, imputation of ungenotyped markers, and identity-by-descent segment detection.

Beagle version 4.1 has a more accurate genotype phasing algorithm and a very fast and accurate genotype imputation algorithm. Version 4.1 also has several changes to the command line arguments which are described in the release notes. The "ped" argument has no effect in version 4.1. If your data contains nuclear families and you want to model the parent-offspring relationships when phasing genotypes, please use version 4.0.

If you use Beagle 4.1 in a published analysis, please report the program version and cite the appropriate article.

The citation for Beagle's phasing algorithm is:

S R Browning and B L Browning (2007) Rapid and accurate haplotype phasing and missing data inference for whole genome association studies by use of localized haplotype clustering. Am J Hum Genet 81:1084-1097.doi:10.1086/521987

The citation for Beagle's genotype imputation algorithm is:

B L Browning and S R Browning (2016). Genotype imputation with millions of reference samples. Am J Hum Genet 98:116-126.doi:10.1016/j.ajhg.2015.11.020

The citation for Beagle's IBD detection algorithm is:

B L Browning and S R Browning (2013). Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194(2):459-71.doi:10.1534/genetics.113.150029

Address of the bookmark: http://faculty.washington.edu/browning/beagle/beagle.html

R Graphs !!

Jit — Fri, 04 Nov 2016 10:48:00 -0500

The blog is a collection of script examples with example data and output plots. R produce excellent quality graphs for data analysis, science and business presentation, publications and other purposes. Self-help codes and examples are provided. Enjoy nice graphs !!

Address of the bookmark: http://rgraphgallery.blogspot.be/

EXCAVATOR2tool

Bulbul — Wed, 30 Nov 2016 04:09:19 -0600

EXCAVATOR2 is a collection of bash, R and Fortran scripts and codes that analyses Whole Exome Sequencing (WES) data to identify CNVs. EXCAVATOR2 enhances the identification of all genomic CNVs, both overlapping and non-overlapping targeted exons by integrating the analysis of In-targets and Off- targets reads. Specifically, it improves the precision of calling CNVs overlapping targeted exons from WES data and enlarges the spectrum of detectable CNVs to off-target events.
EXCAVATOR2 can be effectively employed for the identification of CNVs in small as well as large-scale re-sequencing population and cancer studies. Lastly, it’s of particular interest that all WES experiments can be re-analysed using our method with the beneficial effect to identify novelCNVs in extra-exonic regions by having the full-genome CN profile.

Address of the bookmark: https://sourceforge.net/projects/excavator2tool/

PRISM

Jit — Sat, 10 Dec 2016 15:19:40 -0600

PRISM is a software for split read (reads which span across a structrual variant -- SV ) mapping and SV calling from the mapping result. PRISM is able to detect small insertions and abitrary size deletions, inversions and tandom duplications with the direction of discordant read pairs. PRISM_CTX is a tool for detecting inter-chromosome trans-location events.

PRISM and PRISM_CTX were originally designed and written by Michael Brudno and Yue Jiang, The original PRISM publication can be found here.

The authors may be contacted via e-mail at: prism at cs.toronto.edu.

Additional information is available in the PRISM README file and PRISM_CTX README file.

http://compbio.cs.toronto.edu/prism/

Address of the bookmark: http://compbio.cs.toronto.edu/prism/

SpeedSeq

Jit — Fri, 20 Jan 2017 06:05:43 -0600

A flexible framework for rapid genome analysis and interpretation

C Chiang, R M Layer, G G Faust, M R Lindberg, D B Rose, E P Garrison, G T Marth, A R Quinlan, and I M Hall. SpeedSeq: ultra-fast personal genome analysis and interpretation. Nat Meth (2015). doi:10.1038/nmeth.3505.

http://www.nature.com/nmeth/journal/vaop/ncurrent/full/nmeth.3505.html

Address of the bookmark: https://github.com/hall-lab/speedseq

Mapping NGS

Abhimanyu Singh — Tue, 02 May 2017 07:58:07 -0500

NGS data are just a bunch of sequences, you have no idea which region in the genome each sequences comes from, which gene it represents...
To know that you have to align the sequences to the reference sequence. The reference sequence is in most cases the full genome sequence but sometimes, a library of EST sequences is used.
In either way, aligning your sequence reads to the reference sequence is called mapping.

The most used mappers of DNA-seq data are BWA and Bowtie for DNA-Seq data and Tophat, STAR or HISAT for RNA-Seq data. Mappers differ in which options they can take in, how fast and how accurate they are. Bowtie is faster than BWA, but looses some sensitivity (does not map an equal amount of reads to the correct position in the genome).

Address of the bookmark: http://wiki.bits.vib.be/index.php/Mapping_of_NGS_data

GRASS: a generic algorithm for scaffolding next-generation sequencing assemblies.

Abhimanyu Singh — Tue, 23 May 2017 05:20:32 -0500

GRASS (GeneRic ASsembly Scaffolder)-a novel algorithm for scaffolding second-generation sequencing assemblies capable of using diverse information sources. GRASS offers a mixed-integer programming formulation of the contig scaffolding problem, which combines contig order, distance and orientation in a single optimization objective. The resulting optimization problem is solved using an expectation-maximization procedure and an unconstrained binary quadratic programming approximation of the original problem. We compared GRASS with existing HTS scaffolders using Illumina paired reads of three bacterial genomes. Our algorithm constructs a comparable number of scaffolds, but makes fewer errors. This result is further improved when additional data, in the form of related genome sequences, are used.

Address of the bookmark: https://github.com/AlexeyG/GRASS

Sr.Bioinformatics Analyst (NGS) at Ocimum

Fri, 17 Nov 2017 07:50:44 -0600

JOB FUNCTIONBio Tech/R&D/Scientist
INDUSTRYBiotechnology/Pharmaceutical/Medicine
SPECIALIZATIONBasic Research,Bio-Statistician,Clinical Research
QUALIFICATION
Any Post Graduate
BA (Arts), B.Com. (Commerce), BE/ B.Tech (Engineering), B.Pharm. (Pharmacy), B.Sc. (Science), BL/LLB, BDS (Dental Surgery), B.Ed. (Education), BHM (Hotel Management), BBA/ BBM/ BBS, B.Arch. (Architecture), BCA (Computer Application), Diploma-Other Diploma, B.Plan. (Planning), BGL, B.V.Sc. (Veterinary Science), Other School/ Graduation, BHMS (Homeopathy), BAMS (Ayurveda)
Job Description

1. Must have basic understanding of molecular biology and Genomics.
2. Experience in application development or must have expertise in programming using either of Perl/Python.
3. Experience in statistical programming using R/Bioconductor/Matlab.
4. Strong concept in statistical and mathematical modelling.
5. Experience in designing and developing the bioinformatics pipeline.
6. Must have minimum 2+ years of hands on experience in NSG data analysis such as RNA-Seq,Exome-Seq ,Chip-Seq and downstream analysis.
7. Knowledge in WGS ,WES, Targeted re-sequencing,GWAS and population genomics will be preferred.
8. Must have experience working on opensource software/Framework and commercial software for NGS data analysis and reporting.
9. Should be aware of handling big data and guiding team members on multiple projects simultaneously.
10. Should have experience coordinating with different groups of clinical research scientist for various project requirements.
11. Ability to work as team as well as independently with minimal support.

More at http://www3.ocimumbio.com/

Porechop: tool for finding and removing adapters from Oxford Nanopore reads

Rahul Nayak — Tue, 29 May 2018 07:33:44 -0500

Porechop is a tool for finding and removing adapters from Oxford Nanopore reads. Adapters on the ends of reads are trimmed off, and when a read has an adapter in its middle, it is treated as chimeric and chopped into separate reads. Porechop performs thorough alignments to effectively find adapters, even at low sequence identity.

Porechop also supports demultiplexing of Nanopore reads that were barcoded with the Native Barcoding Kit, PCR Barcoding Kit or Rapid Barcoding Kit.

Address of the bookmark: https://github.com/rrwick/Porechop

RNA-seq Analysis Workshop Course Materials

Jit — Tue, 03 Jul 2018 08:14:14 -0500

RNAseq can be roughly divided into two "types": Reference genome-based - an assembled genome exists for a species for which an RNAseq experiment is performed. It allows reads to be aligned against the reference genome and significantly improves our ability to reconstruct transcripts. This category would obviously include humans and most model organisms but excludes the majority of truly biologically intereting species (e.g., Hyacinth macaw); Reference genome-free - no genome assembly for the species of interest is available. In this case one would need to assemble the reads into transcripts using de novo approaches. This type of RNAseq is as much of an art as well as science because assembly is heavily parameter-dependent and difficult to do well. In this lesson we will focus on the Reference genome-based type of RNA seq. http://chagall.med.cornell.edu/RNASEQcourse/

Address of the bookmark: http://chagall.med.cornell.edu/RNASEQcourse/