BOL: Related items

HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly and scaffolding.

Jit — Mon, 26 Oct 2020 21:23:36 -0500

Despite marked recent improvements in long-read sequencing technology, the assembly of diploid genomes remains a difficult task. A major obstacle is distinguishing between alternative contigs that represent highly heterozygous regions. If primary and secondary contigs are not properly identified, the primary assembly will overrepresent both the size and complexity of the genome, which complicates downstream analysis such as scaffolding.

More at https://github.com/esolares/HapSolo

Address of the bookmark: https://github.com/esolares/HapSolo

India and Germany to begin joint research in the area of 'Bioinformatics in Health Research'

Rahul Nayak — Wed, 17 Jan 2018 14:10:36 -0600

To facilitate bilateral cooperation in biotechnology between the scientific communities of India and Germany, the Department of Biotechnology (DBT) will soon begin collaborative research in the identified priority area of 'Bioinformatics in Health Research' under the programme of Indo-German Cooperation in Health Research.

The purpose of the programme is to stimulate new collaborations, e.g. the preparation of joint projects under national funding programmes. The programme facilitates bilateral cooperation in biotechnology between the scientific communities of India and Germany by way of joint research projects which will encompass bilateral workshops/seminar and exchange visits of scientists.

The programme is being implemented within the agreement of Indo-German cooperation in S&T of 1974, under which the Department of Biotechnology, Government of India and Forschungszentrum Julich BMBH (FZJ), Federal Republic of Germany, have agreed for cooperative programme in biotechnology.

DBT of the Ministry of Science & Technology, Government of India and the Project Management Agency at the German Aerospace Center (DLR-PT, European and International Cooperation), Bonn are the nodal implementing agencies from the Indian and German side respectively.

Through this programme, it is expected that the funded cooperation enables the partners to develop applicable scientific results which can be published and/ or could be commercialised and may lead to formation of joint ventures. All publications, patents coming out of these projects, need to be jointly authored by both Indian and German scientists. All necessary approvals like ethical clearance, HMSC approval from Indian point of view as well as EU, if applicable, from German point of view, e.g. before conducting animal experimentation if any needs to be obtained by PIs before undertaking the project.

Now, both the nodal agencies have invited research proposals in identified priority area of 'Bioinformatics in Health Research' from eligible scientists. Joint research projects are required to be submitted to both the nodal agencies by 15 January 2018. Scientists/faculty members working in regular capacity in universities, national R&D laboratories/institutes and private R&D institutes can be part of this joint research programme. For the private sector, partners from all kind of private sectors are eligible, but financing is limited. For Indian scientists from the private sector, only local hospitality in Germany as part of the exchange visit is available from the German side. For German scientists from the private sector, only travel costs are available for small and medium size enterprises (for definition of SME ref. to 2003/361/EC) as well as local hospitality in India will be borne by themselves.

HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly and scaffolding

Jit — Sat, 08 May 2021 21:25:00 -0500

HapSolo, that identifies secondary contigs and defines a primary assembly based on multiple pairwise contig alignment metrics. HapSolo evaluates candidate primary assemblies using BUSCO scores and then distinguishes among candidate assemblies using a cost function. The cost function can be defined by the user but by default considers the number of missing, duplicated and single BUSCO genes within the assembly. HapSolo performs hill climbing to minimize cost over thousands of candidate assemblies.

Address of the bookmark: https://github.com/esolares/HapSolo

An Introduction to Applied Bioinformatics

Jit — Fri, 02 Mar 2018 04:26:38 -0600

IAB is primarily being developed by Greg Caporaso(GitHub/Twitter: @gregcaporaso) in the Caporaso Lab at Northern Arizona University. You can find information on the courses I teach on my teaching website and information on my research and lab on my lab website.

Address of the bookmark: http://readiab.org/

Illumina based assembly pipeline steps !

Surabhi Chaudhary — Fri, 10 Dec 2021 06:22:54 -0600

Illumina

Merge re-sequenced FastQ files (cat)
Read QC (FastQC)
Adapter trimming (fastp)
Removal of host reads (Kraken 2; optional)
Variant calling
1. Read alignment (Bowtie 2)
2. Sort and index alignments (SAMtools)
3. Primer sequence removal (iVar; amplicon data only)
4. Duplicate read marking (picard; optional)
5. Alignment-level QC (picard, SAMtools)
6. Genome-wide and amplicon coverage QC plots (mosdepth)
7. Choice of multiple variant calling and consensus sequence generation routes (iVar variants and consensus; default for amplicon data || BCFTools, BEDTools; default for metagenomics data)
  - Variant annotation (SnpEff, SnpSift)
  - Consensus assessment report (QUAST)
  - Lineage analysis (Pangolin)
  - Clade assignment, mutation calling and sequence quality checks (Nextclade)
  - Individual variant screenshots with annotation tracks (ASCIIGenome)
8. Intersect variants across callers (BCFTools)
De novo assembly
1. Primer trimming (Cutadapt; amplicon data only)
2. Choice of multiple assembly tools (SPAdes || Unicycler || minia)
  - Blast to reference genome (blastn)
  - Contiguate assembly (ABACAS)
  - Assembly report (PlasmidID)
  - Assembly assessment report (QUAST)
Present QC and visualisation for raw read, alignment, assembly and variant calling results (MultiQC)

SciLifeLab tutorial for bioinformatics analysis !

Jit — Tue, 17 Apr 2018 04:33:00 -0500

SciLifeLab is a national center for molecular biosciences with focus on health and environmental research.

Courses

Old courses (2012-2014)

Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation

Neel — Sun, 03 Apr 2022 20:35:19 -0500

Merfin, a k-mer based variant-filtering algorithm for improved accuracy in genotyping and genome assembly polishing. Merfin evaluates each variant based on the expected k-mer multiplicity in the reads, independently of the quality of the read alignment and variant caller’s internal score. Merfin increased the precision of genotyped calls in several benchmarks, improved consensus accuracy and reduced frameshift errors when applied to human and nonhuman assemblies built from Pacific Biosciences HiFi and continuous long reads or Oxford Nanopore reads, including the first complete human genome. Moreover, we introduce assembly quality and completeness metrics that account for the expected genomic copy numbers.

More at https://www.nature.com/articles/s41592-022-01445-y

Address of the bookmark: https://github.com/arangrhie/merfin

MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads

Abhi — Tue, 05 Sep 2023 07:31:35 -0500

MitoHiFi v3.2 is a python pipeline distributed under MIT License !

MitoHiFi was first developed to assemble the mitogenomes for a wide range of species in the Darwin Tree of Life Project (DToL)

https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-023-05385-y

Address of the bookmark: https://github.com/marcelauliano/MitoHiFi

DEPARTMENT OF GENETICS, GENOMICS AND BIOINFORMATICS, National Biotechnology Development Agency, Nigeria

BioStar — Wed, 05 Sep 2018 10:48:25 -0500

The Genetics, Genomics & Bioinformatics Department (GBBD) at NABDA is unique, encompassing all facets of modern genetics and bioinformatics research. Trans-disciplinary research being conducted in our laboratories would lead to cures for human diseases; improvements to crop and livestock quality and yield; creation of new technologies with applications to medicine; agriculture; environment; and industry.

Our capacity building activities covers both general and specialized topics in translational genetics, and is designed to better acquaint scientists and clinicians with the tools and technologies of genetics and genomics.

OUR RESEARCH ACTIVITIES INCLUDE:

Biomedical Genetics: investigating genetic and environmental factors contributing to phenotypes with relevance to human health and disease.
Computation and Bioinformatics: develop new approaches for the management, analysis, and modelling of large, complex data sets.
Population and Quantitative Genetics: study of how genetic processes evolve to generate genetic variation in populations of organisms, and the effects on the patterning of variation within and between populations and specie, and
Genetic Engineering and Biotechnology: focuses on the research and innovation for industrial enzymes, biologics and biosimilars production.

https://www.h3abionet.org/nabda

Address of the bookmark: http://www.nabda.gov.ng/departments/genetics-genomics-and-bioinformatics

TRITEX, a computational pipeline for chromosome-scale assembly of plant genomes

LEGE — Fri, 14 Feb 2025 10:53:48 -0600

This is the documentation of TRITEX, a computational pipeline for chromosome-scale assembly of plant genomes. It was developed in the research group Domestication Genomics at the Leibniz Institute of Plant Genetics and Crop Research (IPK) Gatersleben.

Address of the bookmark: https://tritexassembly.bitbucket.io/

BOL: Related items

HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly and scaffolding.

India and Germany to begin joint research in the area of 'Bioinformatics in Health Research'

HapSolo: An optimization approach for removing secondary haplotigs during diploid genome assembly and scaffolding

An Introduction to Applied Bioinformatics

Illumina based assembly pipeline steps !

Illumina

SciLifeLab tutorial for bioinformatics analysis !

Courses

Metagenomics Workshop

Introduction to Bioinformatics Using NGS Data

Introduction to Genome Annotation

De Novo Genome Assembly

RNA-seq course

R Programming Foundations for Life Scientists

Single cell RNA sequencing analysis

Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation

MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio high fidelity reads

DEPARTMENT OF GENETICS, GENOMICS AND BIOINFORMATICS, National Biotechnology Development Agency, Nigeria

TRITEX, a computational pipeline for chromosome-scale assembly of plant genomes