Parliament2 runs a combination of tools to generate structural variant calls on whole-genome sequencing data. It can run the following callers: Breakdancer, Breakseq2, CNVnator, Delly2, Manta, and Lumpy. Because of synergies in how the programs use computational resources, these are all run in parallel. Parliament2 will produce the outputs of each of the tools for subsequent investigation.

Address of the bookmark: https://github.com/dnanexus/parliament2

Post: Junior Research Fellow (1 Position)

Duration: Three years

Qualification: First class in M.Sc/M.tech in Bioinformatics/Life Sciences/Biophysics/ Biostatistics/Bioengineering. Experience in Database development, NGS data analysis, Systems Biology and Structural Bioinformatics is desired. Preference will be given to the candidates with good computer programming skills in C, C++, R, Perl, PHP, Unix Scripting etc.

Selected candidates will be paid fellowship as per existing DST norms.

How to apply:

Candidates are requested to apply through one of the two modes given below
1. Online application – Click here to submit the online application https://docs.google.com/forms/d/16h2GLnQ-Ny-tLtlgfY3Bx3sCjeHJE30cfhJaDqW_uRs/viewform?c=0&w=1
2. Application forms can be downloaded from here.https://docs.google.com/file/d/0BwwJEudQStxFWXdNWXl4NWtDaWc/edit
Filled in application form should be sent by post to Dr. D. Bharanidharan, Department of Bioinformatics, Aravind Medical Research Foundation No 1, Anna Nagar Madurai – 625 020,

Candidates should apply by online or submit their applications by post on or before 15th June, 2015. Only Short listed candidates will be called for an interview. No TA/DA will be paid.

Project Scientist-I
Experimental / Computation analysis experience in highthroughput genomics/ clinical application.

Project Manager
Experience in handling large biological projects involving high-throughput genomics/ clinical application.

Scientific Administrative Assistant
Lab Work.

More at https://vinodscaria.genomes.in/positionsopen

#Find all occurrences of a pattern in a string.
#Given: Strings Pattern and Genome.
#Return: All starting positions in Genome where Pattern appears as a substring. Use 0-based indexing.

use strict;
use warnings;

my $string="GATATATGCATATACTT";
my $subStr="ATAT";
my $kmer=length($subStr);

kmerMatch ($string, $subStr, $kmer);

sub kmerMatch { #Check the exact matching kmers with sliding window
my ($string, $myStr, $kmer)=@_;
for (my $aa=0; $aa<=(length($string)-$kmer); $aa++) {
    my $myWin=substr  $string, $aa,$kmer;
    if ($myWin eq $myStr) {
        #print "$myWin eq $myStr\n";
        print $aa;
    }
}
}

The "Ifs" of NGS QC and Trimming

1. Ensures Data Integrity
   If you want to minimize errors in downstream analyses, QC and trimming remove low-quality reads and bases, ensuring high-confidence data. This step is essential for reliable variant calling, assembly, and other applications.

2. Removes Contaminants
   If adapter sequences or contaminants are present in the raw reads, trimming can eliminate them. This prevents issues like misalignment or incorrect biological interpretations, ensuring cleaner data for analysis.

3. Improves Mapping and Assembly
   If your goal is better alignment to a reference genome or improved de novo assembly, trimming low-quality bases and adapters is critical. High-quality reads map more efficiently and generate more accurate assemblies.

4. Reduces Computational Load
   If you want to save computational resources, trimming reduces the dataset size, which speeds up processing and analysis. Clean datasets mean less computational time spent on processing low-quality data.

5. Prepares for Standardized Analyses
   If your project involves multiple datasets, QC and trimming ensure uniformity across them. This standardization makes comparisons valid and reproducible, particularly in large collaborative studies.

The "Buts" of NGS QC and Trimming

1. Risk of Over-Trimming
   But excessive trimming can lead to the loss of informative sequences, reducing read depth and potentially discarding biologically relevant data. This is especially critical in studies with limited sequencing depth.

2. Bias Introduction
   But trimming algorithms might introduce biases, especially if they inadvertently remove sequences with specific biological patterns. This can skew results and compromise biological insights.

3. Loss of Context in Paired-End Reads
   But trimming one read in a pair more than the other can lead to loss of pairing information. This complicates downstream analyses that rely on paired-end data, such as structural variant detection.

4. Time and Resource Intensive
   But running QC and trimming for large datasets can be computationally expensive and time-consuming. As sequencing depth increases, preprocessing becomes a bottleneck in the analysis pipeline.

5. Variable Standards
   But the criteria for trimming (e.g., quality threshold, minimum read length) can vary between tools and datasets. This variability may affect reproducibility and comparability of results across studies.

Balancing the "Ifs" and "Buts"

To maximize the benefits of QC and trimming while mitigating the challenges, consider the following best practices:

• Use QC Tools Wisely: Start with tools like FastQC to identify quality issues in your raw data. Visualizing quality metrics helps tailor your trimming parameters.

• Choose Reliable Trimming Tools: Tools like Trimmomatic, Cutadapt, and BBduk offer adaptive and customizable trimming options. Select one that aligns with your dataset and project goals.

• Set Reasonable Parameters: Avoid over-trimming by setting quality thresholds and minimum read lengths that balance data retention and quality improvement.

• Test Downstream Effects: Validate the impact of QC and trimming on downstream analyses, such as alignment efficiency, variant calling accuracy, or assembly quality.

• Document Your Workflow: Maintain detailed records of the parameters and tools used for QC and trimming. This ensures reproducibility and enables better troubleshooting.

Conclusion

NGS quality control and trimming are essential steps to ensure reliable and accurate data for analysis. While the "ifs" highlight the clear benefits of these steps, the "buts" remind us of the potential pitfalls. By adopting best practices and carefully balancing these considerations, you can optimize your preprocessing workflow and unlock the full potential of your sequencing data.

• Expansion of Protists and Fungi with hundreds of annotated genomes
• Variation data for bread wheat, rice, Aedes aegypti, and Ixodes scapularis
• Whole genome alignments for O. longistaminata and T. cacao
• Non-coding RNA gene models in Bacteria
• New assembly of tomato (version 2.50)
• Full support for UCSC Track Hub format for hosting your own data in Ensembl

More at http://www.ensembl.info/blog/2015/06/16/ensembl-genomes-release-27-is-out/

The prepint version is found on http://www.biorxiv.org/content/early/2017/08/09/173872

It uses the pyPaSWAS framework for sequence alignment (https://github.com/swarris/pyPaSWAS)

Address of the bookmark: https://github.com/swarris/Pacasus

Minimum qualification: MSc in any branch of life sciences

Applications are invited for the position of a Research Assistant in the Centre for Human Genetics, Bangalore.

The project involves identification of mutations in MPS (mucopolysaccharidosis) patients, and study of their predicted effects to understand how the mutations lead to disease.

Techniques used will be genomic DNA isolation, PCR, DNA sequencing and sequence analysis. Computational tools would also be used to analyse and interpret data.

Candidates may be assigned work in the ongoing project or in new ones.

The candidate who is selected and joins would acquire hands-on experience in research and the capability to conduct insightful research.

Candidates applying for the position should have an MSc in any branch of life sciences. Those with research experience in cell and molecular biology, and high NET/ GATE score would be preferred.

The successful applicant is expected to stay for at least one and a half years.

Please apply with CV to Sudha Srinivasan (sudha@ibab.ac.in), stating where you saw this ad.

• Binaries for Linux/macOS
• From sources for Linux/macOS
• From sources for Windows

Address of the bookmark: https://github.com/imgag/ngs-bits

Address of the bookmark: https://seeing-theory.brown.edu/