BOL: Related items

Referee: Genome assembly quality scores

Jit — Sun, 04 Nov 2018 16:44:30 -0600

Modern genome sequencing technologies provide a succint measure of quality at each position in every read, however all of this information is lost in the assembly process. Referee summarizes the quality information from the reads that map to a site in an assembled genome to calculate a quality score for each position in the genome assembly.

We accomplish this by first calculating genotype likelihoods for every site. For a given site in a diploid genome, there are 10 possible genotypes (AA, AC, AG, AT, CC, CG, CT, GG, GT, TT). Referee takes as input the genotype likelihoods calculated for all 10 genotypes given the called reference base at each position.

Referee is a program to calculate a quality score for every position in a genome assembly. This allows for easy filtering of low quality sites for any downstream analysis.

https://github.com/gwct/referee

Address of the bookmark: https://gwct.github.io/referee/#

Genomics and Personalized Medicine Breakthroughs

Sun, 01 Jun 2014 23:40:14 -0500

http://bit.ly/e8QGzY Human genome mapping is now enabling a breakthrough in medical innovation -- personalized medicine. What does this mean for patients? We can now identify predispositions to disease, predict how we metabolize drugs, and figure out what kinds of treatments we may respond to, and even determine when a drug may give us an adverse reaction. All medical specialties benefit from human genome intelligence -- oncology saw the first impacts -- but advances are now being seen in cardiology, obstetrics and gynecology, pediatric diseases, gastroenterology, rheumatology, immunology and other areas. This video covers the areas that genetic medicine is impacting and where the future of genomic medicine is heading.

Genomic Medicine - Bruce Korf (2014)

Tue, 24 Jun 2014 07:58:44 -0500

May 21, 2014 - Current Topics in Genome Analysis 2014 A lecture series covering contemporary areas in genomics and bioinformatics. More: http://www.genome.gov/COURSE2014

Ryan E. Mills Lab

Tue, 26 May 2015 09:29:24 -0500

Our research group is primarily focused on the analysis of whole genome sequence data to identify genetic variation (primarily structural variation) and examine their potential functional impact in disease phenotypes. We are particularly interested in analyzing complex regions of the genome that are not easily resolved through modern sequencing approaches and which may exhibit interesting mechanistic origins.

We are also interested in the large-scale integration of genomic, expression, methylation and proteomic data sets, as well as the application of whole genome sequence analysis in clinical diagnostics.

More at http://millslab.ccmb.med.umich.edu/index.html

Pilon

Rahul Nayak — Mon, 08 Feb 2016 15:56:18 -0600

Pilon is a software tool which can be used to:

Automatically improve draft assemblies
Find variation among strains, including large event detection

Pilon requires as input a FASTA file of the genome along with one or more BAM files of reads aligned to the input FASTA file. Pilon uses read alignment analysis to identify inconsistencies between the input genome and the evidence in the reads. It then attempts to make improvements to the input genome, including:

Single base differences
Small indels
Larger indel or block substitution events
Gap filling
Identification of local misassemblies, including optional opening of new gaps

More at https://github.com/broadinstitute/pilon/wiki

Address of the bookmark: https://github.com/broadinstitute/pilon/wiki

ASAR: Advanced metagenomic Sequence Analysis in R

Jit — Mon, 09 Jul 2018 05:20:50 -0500

An interactive data analysis tool for selection, aggregation and visualization of metagenomic data is presented. Functional analysis with a SEED hierarchy and pathway diagram based on KEGG orthology based upon MG-RAST annotation results is available.

To read the manual, please click the link https://askarbek-orakov.github.io/ASAR/

Address of the bookmark: https://github.com/Askarbek-orakov/ASAR

Research opening @ IBAB, Bengaluru

Mon, 28 Jan 2019 17:45:54 -0600

Applications are invited for the position of Project Assistant in Bio-IT centre at IBAB, Electronic city, Bengaluru. The successful candidate will work in the next-generation sequencing (NGS) facility to perform nucleic acid isolations, quality and quantity analyses, NGS library preparations, and maintenance of sequencing related instruments and other related lab equipment. In addition, the candidate is expected to assist in various administrative matters including procurement, maintaining inventory of laboratory consumables etc. The person will have opportunity to get expertise in entire pipeline of NGS. After sufficient training, the person will act as a demonstrator in the workshops conducted by Bio-IT centre.
Essential Qualifications, Experiences, and Skills:

1. MSc. or B. Tech. or equivalent degree in Biotechnology or related life sciences discipline.
2. Strong aptitude for laboratory work and should be detail-oriented person.
3. Hands-on experience in basic molecular biology techniques.
4. Prior experience in working in a research laboratory or industry.
5. Basic IT skills that include familiarity with Microsoft Office packages.
6. Ability to carry out basic maintenance of general lab equipments and laboratory resources.
7. Ability to maintain accurate records of laboratory work.
8. Willingness to learn, and should be a team player.
Desirable Experience and Skills:
1. Familiarity with NGS technology.
2. Experience in preparation of NGS libraries.
3. Familiarity with Sanger sequencing technology (capillary electrophoresis based)

Remuneration: Remuneration will commensurate with expertise and experience.

How to Apply: Interested applicants fulfilling the criteria may send their detailed CV and a cover letter that explains their suitability for this position, in a single PDF, to Dr. Sreekanth Reddy at careers_bioit@ibab.ac.in. Last date for submission of application is 23rd February 2019. Please mention the position applying for in the subject line of the email.

About IBAB: The Bio-IT Centre at IBAB has state-of-art sequencing facility with the HiSeq 2500 and accessories such as Qubit, Covaris, Agilent 2200 TapeStation, Stratagene Mx 3000 for next generation sequencing, 3500 Dx Genetic Analyzer for capillary electrophoresis based sequencing, and HiScan for microarray imaging. The facility is fully operational and providing services to the scientific community. The Institute of Bioinformatics and Applied Biotechnology (IBAB) is a unique institute engaged in education, research and entrepreneur support programs and is based at Electronic City, Bangalore. IBAB’s mission is to catalyze the growth of the biotechnology and bioinformatics industries in India. To know more please visit: http://www.ibab.ac.in/index.php/bioit/

Stacks

Jitendra Narayan — Wed, 24 Feb 2016 15:52:30 -0600

Stacks is a software pipeline for building loci from short-read sequences, such as those generated on the Illumina platform. Stacks was developed to work with restriction enzyme-based data, such as RAD-seq, for the purpose of building genetic maps and conducting population genomics and phylogeography.

More at http://catchenlab.life.illinois.edu/stacks/

Address of the bookmark: http://catchenlab.life.illinois.edu/stacks/

Trimmomatic: A flexible read trimming tool for Illumina NGS data

Jit — Fri, 15 Apr 2016 05:58:53 -0500

Paired End:

java -jar trimmomatic-0.35.jar PE -phred33 input_forward.fq.gz input_reverse.fq.gz output_forward_paired.fq.gz output_forward_unpaired.fq.gz output_reverse_paired.fq.gz output_reverse_unpaired.fq.gz ILLUMINACLIP:TruSeq3-PE.fa:2:30:10 LEADING:3 TRAILING:3 SLIDINGWINDOW:4:15 MINLEN:36

This will perform the following:

Remove adapters (ILLUMINACLIP:TruSeq3-PE.fa:2:30:10)
Remove leading low quality or N bases (below quality 3) (LEADING:3)
Remove trailing low quality or N bases (below quality 3) (TRAILING:3)
Scan the read with a 4-base wide sliding window, cutting when the average quality per base drops below 15 (SLIDINGWINDOW:4:15)
Drop reads below the 36 bases long (MINLEN:36)

More at http://www.usadellab.org/cms/?page=trimmomatic

Address of the bookmark: http://www.usadellab.org/cms/?page=trimmomatic

segemehl

Anjana — Tue, 10 May 2016 08:10:15 -0500

segemehl is a software to map short sequencer reads to reference genomes. Unlike other methods, segemehl is able to detect not only mismatches but also insertions and deletions. Furthermore, segemehl is not limited to a specific read length and is able to map primer- or polyadenylation contaminated reads correctly. segemehl implements a matching strategy based on enhanced suffix arrays (ESA).

More at http://www.bioinf.uni-leipzig.de/Software/segemehl/

Manual http://www.bioinf.uni-leipzig.de/Software/segemehl/segemehl_manual_0_1_7.pdf

Address of the bookmark: http://hoffmann.bioinf.uni-leipzig.de/LIFE/segemehl.html