BOL: Related items

Quick next generation sequencing (NGS) terms definition

Neel — Fri, 09 Jun 2017 04:52:26 -0500

fragment size: the Illumina WGS protocol generates paired-end reads from both ends of longer fragments. The lengths of these fragments are assumed to be sampled from a normal distribution. Therefore, in the absence of structural variants, mapping locations of the paired ends span within an interval [δmin,δmax]. Most (>90%) of paired-end reads are sampled from no-SV regions, therefore the fragment size distribution can be learned empirically for each WGS data set separately.

concordant reads: a read pair is called concordant if they can be mapped to the reference genome as “expected”: (a) mapped to opposing strands where the upstream read is mapped to the forward strand and the downstream read is mapped to the reverse strand2, (b) the distance between ends is between the minimum and maximum expected fragment size.

discordant reads: briefly, any non-concordant read pair is considered discordant. Note that, by definition, the discordant read pairs signal potential SVs. The sequence signature produced by these type of reads is known as read-pair signature.

split reads: a read that can only be mapped to the reference genome by breaking into two sub-reads is called a split-read. These types of reads also indicate a potential SV or a short insertion or deletion (indel).

read depth: number of reads that map within a region of the genome. Overall genome-wide read depth is also referred to as depth of coverage. It is expected that the number of reads that “cover” each base-pair to follow a Poisson distribution. Therefore, if the read depth over a certain region deviates significantly from this distribution, it signals for a potential copy number variation (CNV).

X. Shirley Liu Lab

Tue, 26 May 2015 17:28:23 -0500

The research in our laboratories are focused on the following three areas:

Bioinformatics
Cancer
Epigenetics

More at http://liulab.dfci.harvard.edu/

MIX: Combining multiple assemblies from NGS data

Rahul Nayak — Tue, 08 May 2018 04:58:05 -0500

Mix is a tool that combines two or more draft assemblies, without relying on a reference genome and has the goal to reduce contig fragmentation and thus speed-up genome finishing. The proposed algorithm builds an extension graph where vertices represent extremities of contigs and edges represent existing alignments between these extremities. These alignment edges are used for contig extension. The resulting output assembly corresponds to a path in the extension graph that maximizes the cumulative contig length.

The Mix algorithm, approach and results were published in BMC bioinformatics : http://www.biomedcentral.com/1471-2105/14/S15/S16.

Address of the bookmark: https://github.com/cbib/MIX

RA Bioinformatics at NATIONAL BUREAU OF ANIMAL GENETIC RESOURCES

Thu, 28 May 2015 19:25:33 -0500

NATIONAL BUREAU OF ANIMAL GENETIC RESOURCES

Near Basant Vihar G.T. Road Bypass P.O. Box No.129

Karnal - 132001 (Haryana)

WALK-IN-INTERVIEW

A walk-in-Interview is proposed to be held at National Bureau of Animal Genetic Resources, Karnal (Haryana)-132001 at 10:30 AM on 10.06.2015 to select One Research Associate as per details given below:

1. One post of Research Associate under National Fellow project entitled “Genome data mining to unravel molecular basis of thermotolerance and adaptation to diverse environments in native cattle and buffaloes”.

The post duration is Upto 22.05.2016 or earlier & Co-terminus with the project.

Essential Qualifications: Master’s degree (M.Sc. / M.V.Sc.) in Biotechnology/ Animal Genetics and Breeding/ Life Sciences/ Bioinformatics with 2 Years research experience in relevant subject or Ph.D in any of the above subjects.

Desirable: Working Experience in molecular biology, gene expression/ microarray data analysis, SNP genotyping and sequence data analysis, mammalian cell-culture handling etc.

Emolument: Rs. 23,000/- per month + HRA as per admissibility

Research Associate: ONE

Duration of engagement: Upto 22.05.2016 or earlier Co-terminus with the project

Age Limit:  40 years for Men  45 years for women as on date of interview

Note: Relaxation in age will be admissible for SC/ST & OBC candidates as per Govt. of India /ICAR norms

1. The applicants must bring with them original documents and brief of research work done during post graduation along with a set of photocopy and latest two passport size photographs. 2. A panel of selected candidates will also be made which may be utilized for filling of positions of shorter durations in future if demand arises. 3. Experience certificate in original, if any 4. The above positions are purely on temporary basis and are coterminus with the project. No TA/DA will be paid to attend the interview. 5. Any other clarifications can be had on the date of interview. 6. The Director’s decision will be final and binding on all respects.

Advertisement: http://210.212.93.85/RAadvertisiment.pdf

HALC: High throughput algorithm for long read error correction

Jit — Fri, 08 Jun 2018 10:47:41 -0500

HALC, a high throughput algorithm for long read error correction. HALC aligns the long reads to short read contigs from the same species with a relatively low identity requirement so that a long read region can be aligned to at least one contig region, including its true genome region’s repeats in the contigs sufficiently similar to it (similar repeat based alignment approach) HALC was able to obtain 6.7-41.1% higher throughput than the existing algorithms while maintaining comparable accuracy. The HALC corrected long reads can thus result in 11.4-60.7% longer assembled contigs than the existing algorithms.

Address of the bookmark: https://github.com/lanl001/halc

JRF Position – Bioinformatics Department, Aravind Medical Research Foundation (AMRF), Madurai.

Fri, 12 Jun 2015 05:42:12 -0500

Applications are invited from eligible candidates for the post of Junior Research Fellow (JRF) to work at the Department of Bioinformatics, Aravind Medical Research Foundation in the following DST-SERB funded project “Clinical exome analysis pipeline for eye disease next-generation sequencing panel”.

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.

Convert EnsEMBL GTF to Annotation table (Geneid, GeneSymbol, GeneWiseChrLocation, GeneClass, Strand) Raw

EagleEye — Fri, 24 Jun 2016 18:08:49 -0500

Bash Script source:

https://gist.github.com/santhilalsubhash/367befcf5216be4b1fd9

Information:

This script converts EnsEMBL GTF (Ex: https://gist.githubusercontent.com/santhilalsubhash/1e7cca357e52a181dc25/raw/cfb803e07900a2baefbb6534f1299fd30cb57a29/sample.GTF) file to annotation table format. It generated two files
1) Transcript wise chromosome location with information about transcripts (Ex: https://gist.githubusercontent.com/santhilalsubhash/c7dec516e0338503a4b6/raw/de0af1a39f0005c4ce7321c5ae57fc8b4a14c7f4/sample.GTF_enst_annotation.txt)
2) Gene wise chromosome location with information about genes (Ex: https://gist.githubusercontent.com/santhilalsubhash/c92006c5080f0333bec2/raw/d16e0b2440d73b09b486d3c9751cdb248a73fa0b/sample.GTF_ensg_annotation.txt)

Note: You can download GTF files from http://www.ensembl.org/info/data/ftp/index.html

Pattern Matching Problem Solution with Perl

Jit — Tue, 09 Jun 2015 23:58:45 -0500

Problem at http://rosalind.info/problems/1c/

#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;
    }
}
}

BASE: a practical de novo assembler for large genomes using long NGS reads

Rahul Nayak — Fri, 19 Oct 2018 07:25:21 -0500

new de novo assembler called BASE. It enhances the classic seed-extension approach by indexing the reads efficiently to generate adaptive seeds that have high probability to appear uniquely in the genome. Such seeds form the basis for BASE to build extension trees and then to use reverse validation to remove the branches based on read coverage and paired-end information, resulting in high-quality consensus sequences of reads sharing the seeds. Such consensus sequences are then extended to contigs.

Address of the bookmark: https://github.com/dhlbh/BASE

Ensembl 27

Jit — Tue, 16 Jun 2015 16:10:36 -0500

What is new?

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/