BOL: Related items

Phased Human Genome Assembly !

Rahul Nayak — Mon, 08 Oct 2018 09:10:54 -0500

The new publicly available assembly (PacBio HG00733) has the fewest gaps of any human genome assembly, with more than half of the genome contained in gapless sequence at least 27 Mb long. The primary contig assembly is 2.89 Gb long and consists of 865 contigs that were assembled with PacBio data generated with the company’s Sequel® System. Using the FALCON-Unzip assembler, maternal and paternal haplotypes were resolved over more than 80% of the genome. Maternal and paternal haplotype blocks were then further phased using Hi-C technology and the FALCON-Phase methoddeveloped in collaboration with Phase Genomics. The genome was then de novo scaffolded using Phase Genomics’ Proximo Hi-C platform, resulting in the first chromosome-scale diploid assembly of a single individual accomplished with only two technologies. More specific details about the assembly are included on the PacBio blog.

The data are available using NCBI accession IDs: BioProject: (PRJNA483067), assembly: [RBJD00000000] and sequence data (SRP155659).

Additional Resources

Interactive map showcasing global initiatives underway to generate reference-quality human genome assemblies for diverse populations
BioReport Podcast on the value of ethnic-specific reference genomes
Nature Reviews Genetics paper from NHGRI: Prioritizing diversity in human genomics research
Article in The Journal of Precision Medicine: “Minority Report – Ethnic Diversity and the Real Promise for Precision Medicine”
Article in Bio-IT World: “Genomic Data Standards Are a Necessity”
NHGRI Project Award: High Quality Human and Non-Human Primate Genome Assemblies

More details are available on the PacBio website:

Blog post: Data Release: Highest-Quality, Most Contiguous Individual Human Genome Assembly to Date
Blog post: For Reference-Grade Human Genome Assemblies, SMRT Sequencing Yields Optimal Results
Webinar: Assembling High-Quality Human Reference Genomes for Global Populations
FALCON-Phase press release and article preprint
PacBio research focus webpage about Human Population Genetics

Ref: https://stockguru.com/2018/10/08/pacific-biosciences-releases-highest-quality-most-contiguous-individual-human-genome-assembly-to-date/

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/#

Project Associate Bioinformatics @ IIT Mandi

Wed, 06 May 2015 06:18:47 -0500

Eligibility : MSc(Bio-Informatics, Bio-Tech), BSc, BE/B.Tech(Bio-Medical /Bio-Technology Engg, CSE)

Location : Kulu

Job Category : Govt Jobs, Research

Last Date : 20 May 2015

Job Type : Full Time

Hiring Process : Walk - In
IIT Mandi - Job Details
IIT Mandi

Project Associate Bioinformatics Job vacancies in IIT Mandi on purely temporary

Project: “Exploring the Human Microbiome: A hunt for the candidates for Pre- and Pro-biotics.”

Minimum Qualification and Experience: M.Sc. in Bioinformatics OR B.Tech / BE in Bioinformatics OR M. Sc. in Biotechnology / Life sciences or related areas with Diploma or relevant experience in Bioinformatics OR B.Tech in Biotechnology / Computer Science or MCA or B. Sc. in Life Sciences or related areas with PG diploma in Bioinformatics. Candidates with experience in NGS data handling and analysis will be preferred. Tenure: Initially for one year, extendable based upon performance.

No of Posts: 01

Salary: Rs. 12000- 18000/- per month.

How to apply

Interested candidates can come for a Walk-in-Interview on 20th May 2015 starting at 8:30 AM at the Academic Block, Indian Institute of Technology (IIT), Mandi, Vallabh College Campus, Near Bus Stand, Mandi, HP. The candidates should bring along their curriculum vitae (CV) and copies of educational and experience certificates. In case of any queries please contact: Dr. Tulika Prakash Srivastava (Principal Investigator), Indian Institute of Technology Mandi, Near Bus Stand Mandi - 175 001, Himachal Pradesh.

More at

http://www.iitmandi.ac.in/administration/advrt/Walk-in-interview_Ad.pdf

Next Generation Sequencing (NGS) Tutorials

Jitendra Narayan — Sat, 24 Aug 2013 06:01:37 -0500

Institute of computational biomedicine, Cornell University provide an NGS workshop tutorial at http://chagall.med.cornell.edu/NGScourse/

You can also add your favourite NGS educational material, or workshop tutorial by commenting on this bookmarks for user benefit.

Understanding the basics of genome sequencing:

Tutorial by Luke Jostins.

http://www.genetic-inference.co.uk/blog/2009/04/basics-sequencing-dna-part-1/

http://www.genetic-inference.co.uk/blog/2009/08/basics-sequencing-dna-part-2/

A window into third-generation sequencing

http://hmg.oxfordjournals.org/content/19/R2/R227.full.pdf

==============================================

NGS data analysis pipelines

Detecting and annotating genetic variations using the HugeSeq pipeline DOI: 10.1038/nbt.2134
NARWHAL, a primary analysis pipeline for NGS data http://bioinformatics.oxfordjournals.org/cgi/content/abstract/28/2/284?etoc
RseqFlow: Workflows for RNA-Seq data analysis DOI: 10.1093/bioinformatics/btr441
ngs_backbone: a pipeline for read cleaning, mapping and SNP calling using Next Generation Sequence 10.1186/1471-2164-12-285
A framework for variation discovery and genotyping using next-generation DNA sequencing data PubMed: 21478889
SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects DOI: 10.1186/1471-2105-12-134 Abstract: http://www.biomedcentral.com/1471-2105/12/134/abstract
WEP: a high-performance analysis pipeline for whole-exome data http://www.biomedcentral.com/1471-2105/14/S7/S11
DDBJ read annotation pipeline: a cloud computing-based pipeline for high-throughput analysis of next-generation sequencing data. http://www.ncbi.nlm.nih.gov/pubmed/23657089
GATK: a Toolkit for Genome Analysis http://www.broadinstitute.org/gatk/
Metagenomics:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsmetagenomics/
RNASeq:http://www.nbic.nl/education/nbic-phd-school/course-schedule/ngsrnaseq/
Bioinformatics and Seq courses: http://www.isb-sib.ch/training/training-activities-schedule/archive-2013.html
Variant Detection (Model organism) Advanced tutorial https://docs.google.com/document/pub?id=1CuKkKylVDb03tnN7RSWl5EUzleetn0ctjmvaidPKLxM
Variant Detection Introductory tutorial https://docs.google.com/document/pub?id=1ZRzrjjOCvtAu3m-IKL-rbJ1f4On60dDL_IEwG7oejdI
Microbial de novo Assembly for Illumina Data Introductory tutorial https://docs.google.com/document/pub?id=1N3AB9ptISUu4zULqe1kXpVF0BDyGb5f5yzxWSJd_WNM
RNAseq Differential Gene Expression Introductory tutorial https://docs.google.com/document/pub?id=1KbTiBHtvHLfPRZ39AY3uriazrINA8TJzgjjwn1zPP7Y

" Please add your favourite NGS link below in comment section for the benefit of bioinformatics community ".

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

Project Associate Bioinformatics @ Central Food Technological Research Institute (CFTRI)

Tue, 19 May 2015 07:01:12 -0500

Central Food Technological Research Institute (CFTRI)

Project Assistant (Level-II) job position in Central Food Technological Research Institute (CFTRI) on a temporary contractual basis in the research project (GAP 0469) funded by Science & Engineering Research Board (SERB), Government of India, New Delhi tenable at the Lipidomics Centre, CSIR-CFTRI, Mysore, Karnataka

Name of the Position :

Qualification : First class M. Sc. in Biochemistry/Microbiology/Genetics/ Bioinformatics with good academic record and preferably with experience in molecular biology techniques and basic knowledge of molecular biology and biological chemistry

Emoluments : Rs. 12,000/- per month (Consolidated)

Age Limit : The upper age limit for applying shall be 28 years (as on 22-5-2015), which is relaxed for candidates belonging to Scheduled Castes/Schedule Tribes, Women, Persons with Disabilities (PWD) and OBCs as per GoI norms.

How to apply

Eligible candidates may send their complete Bio-data with e-mail address/contact phone number along with attested copies of the necessary certificates through post to Prof. Ram Rajasekharan, Lipidomics Centre, Department of Lipid Science, CSIR-CFTRI, Mysore-570 020, Karnataka (email: ram@cftri.res.in) on or before 22.05.2015

More at http://www.cftri.com/pa_gap0469.html

Scaffolding of a bacterial genome using MinION nanopore sequencing

Rahul Agarwal — Tue, 07 Jul 2015 16:59:25 -0500

Second generation sequencing has revolutionized genomic studies. However, most genomes contain repeated DNA elements that are longer than the read lengths achievable with typical sequencers, so the genomic order of several generated contigs cannot be easily resolved. A new generation of sequencers offering substantially longer reads is emerging, notably the Pacific Biosciences (PacBio) RS II system and the MinION system, released in early 2014 by Oxford Nanopore Technologies through an early access program.

Address of the bookmark: http://www.nature.com/srep/2015/150707/srep11996/full/srep11996.html

NRCO Vacancies For Junior Research Fellow – Pakyong, Sikkim

Thu, 28 May 2015 19:10:07 -0500

Junior Research Fellow
Pay Scale:Rs 25,000/-
Educational Requirements:MSc (with NET qualification) / M.Tech degree (with or without NET) with minimum 55% marks in Biotechnology/ Bioinformatics/ Molecular Biology or any other related field.
Other Qualification:Computer Skills (Linux, Perl, Java, MySQL) with experience in advanced molecular Biology techniques.
No of Post: 01
How To Apply: Walk-in-Interviews will be held at ICAR-National Research Centre for Orchids,Pakyong 737106, Sikkim for the post of 01 (One) Junior Research Fellow and 01 (One) Project Attendant under Project ‘DBT’s Twinning programme for the NE’ titled “Assessment of chemical and genetic divergence of some fragrant orchids of north-east India for sustainable improvement of community livelihood” as indicated below. The appointment will be on contractual basis and the incumbents shall not have any claim for regular appointment in ICAR.

Details will be available at: http://nrcorchids.nic.in/Employments/Vacancy%20-%20JRF.pdf

GAM-NGS: genomic assemblies merger for next generation sequencing

Jit — Fri, 19 May 2017 07:44:14 -0500

GAM-NGS is a tool able to merge two or more assemblies in order to improve contiguity and correctness. It can be used on all NGS-based assembly projects and it shows its full potential with multi-library Illumina-based projects. With more than 20 available assemblers it is hard to select the best tool. In this context we propose a tool that improves assemblies (and, as a by-product, perhaps even assemblers) by merging them and selecting the generating that is most likely to be correct.

Address of the bookmark: https://github.com/vice87/gam-ngs

BEDOPS v2.4.26: high-performance genomic feature operations

Jit — Mon, 12 Jun 2017 10:11:01 -0500

BEDOPS v2.4.26 is a suite of tools to address common questions raised in genomic studies — mostly with regard to overlap and proximity relationships between data sets. It aims to be scalable and flexible, facilitating the efficient and accurate analysis and management of large-scale genomic data.

The overview section of the BEDOPS v2.4.26 documentation summarizes the toolkit, functionality and performance enhancements. The reference table offers documentation for all applications and scripts.

Address of the bookmark: https://github.com/bedops/bedops

Assistant Professor, Central University of Himachal Pradesh, India

Thu, 28 May 2015 19:22:49 -0500

Central University of Himachal Pradesh

PO Box: 21

DHARAMSHALA, DISTRICT KANGRA, HIMACHAL PRADESH – 176215

EMPLOYMENT NOTICE NO.: 02 / 2015

APPOINTMENT TO VARIOUS TEACHING, NON-TEACHING AND OTHER ACADEMIC STAFF POSITIONS

Applications in the prescribed form are invited from the eligible candidates for the following Teaching, Non-Teaching and other Academic Staff positions to be filled up on regular basis: Details of teaching positions:

15. School of Life Sciences

Computational Biology & Bioinformatics

1 (ST - 1) 2 (UR - 2)

Last Date of receipt of applications: 22ND JUNE, 2015

http://www.cuhimachal.ac.in/download/2015/may-2015/emp-notice-eng/1.%20Employment%20Notice%20No.%2002-2015%20dated%2019.05.2015_for%20Website.pdf