BOL: Related items

Candidates required in Bioinformatics and Genomics UK ONLY

Fri, 03 Jul 2015 08:22:41 -0500

I have various permanent positions available based in London, Manchester, Herftfordshire, Oxford and Belfast, as well as other areas throughout the UK.

If you are looking for a new opportunity and have skills within any sector of Bioinformatics with an IT skill then I would love to hear from you. I have various exciting opportunities from programmers to researchers to scientists.

Call me now on 01772 278050 or email me your cv and requirements and I will call you back dareen.evans@itworkshealth.co.uk

Bioinformatician at QUB, UK

Tue, 01 Oct 2024 21:43:23 -0500

The post-holder will work under the direction of the Precision Medicine Centre of Excellence's (PMC) Bioinformatics lead and collaborate closely with the Scientific and Clinical leads. The primary responsibilities will be to develop, validate and maintain data analysis pipelines and algorithms that enable the comprehensive analysis of genomic information derived from cancer specimens, within the context of clinical studies. The PMC is an ISO 15189:2012 accredited medical laboratory (Ref 20634), providing an integrated cancer diagnostic and clinical research service that combines high throughput genomics and digital pathology (www.qub.ac.uk/research-centres/PMC).

About the person:

Essential criteria:

Hold or be about to obtain* a PhD in Computational biology, Bioinformatics, computing science or related subjects. (*must be obtained within 3 months of the closing date for the post) or MSc equivalent with at least 3 years' work experience in a relevant role.
Significant relevant research experience in genomics or work experience in a relevant technical/scientific role.
Significant experience in managing and analysing NGS data and other big data.
Experience in developing and maintaining analysis pipelines.
Experience working with Linux/UNIX environments.
Proficiency with python, bash, R and/or equivalent languages.
To be successful at shortlisting stage, please ensure you clearly evidence in your application how you meet the essential and, where applicable, desirable criteria listed in the Candidate Information document linked on our website.

More at https://hrwebapp.qub.ac.uk/tlive_webrecruitment/wrd/run/ETREC107GF.open

Calling variants in non-diploid systems

Neel — Sat, 26 Jun 2021 15:37:49 -0500

The main challenge associated with non-diploid variant calling is the difficulty in distinguishing between the sequencing noise (abundant in all NGS platforms) and true low frequency variants. Some of the early attempts to do this well have been accomplished on human mitochondrial DNA although the same approaches will work equally good on viral and bacterial genomes (Rebolledo-Jaramillo et al. 2014, Li et al. 2015).

Address of the bookmark: https://training.galaxyproject.org/training-material/topics/variant-analysis/tutorials/non-dip/tutorial.html

DAVI: Deep learning-based tool for alignment and single nucleotide variant identification

Jit — Tue, 16 Mar 2021 05:41:33 -0500

DAVI consists of models for both global and local alignment and for variant calling. We have evaluated the performance of DAVI against existing state-of-the-art tool sets and found that its accuracy and performance is comparable to existing tools used for bench-marking. We further demonstrate that while existing tools are based on data generated from a specific sequencing technology, the models proposed in DAVI are generic and can be used across different NGS technologies as well as across different species

https://iopscience.iop.org/article/10.1088/2632-2153/ab7e19/pdf

Address of the bookmark: https://github.com/gguptaiitd/NEAT

geck: trio-based comparative benchmarking of variant calls

Jit — Sun, 19 May 2019 20:54:12 -0500

Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate differential precision and recall between the two pipelines with 10−3uncertainty.

Address of the bookmark: https://github.com/sbg/geck

LoFreq*: A sequence-quality aware, ultra-sensitive variant caller for NGS data

BioStar — Tue, 18 Feb 2020 03:24:22 -0600

LoFreq* (i.e. LoFreq version 2) is a fast and sensitive variant-caller for inferring SNVs and indels from next-generation sequencing data. It makes full use of base-call qualities and other sources of errors inherent in sequencing (e.g. mapping or base/indel alignment uncertainty), which are usually ignored by other methods or only used for filtering.

https://github.com/CSB5/lofreq

http://csb5.github.io/lofreq/installation/

https://github.com/CSB5/lofreq/tree/master/dist

Address of the bookmark: http://csb5.github.io/lofreq/

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

Corona Virus Genome and Data Download !

Abhi — Sun, 12 Dec 2021 23:34:54 -0600

Genes and its related metadata could be found on https://www.ncbi.nlm.nih.gov/datasets/coronavirus/genomes/

Address of the bookmark: https://www.ncbi.nlm.nih.gov/datasets/coronavirus/genomes/

Which are the best statistical programming languages to study for a bioinformatician?

Jitendra Narayan — Wed, 10 Jul 2013 14:35:34 -0500

In Bio-informatics based genome sequencing and predicting metabolic pathways research jobs I used Matlab, SAS, SPSS, R and several Bioconductor packages. Matlab had a lot of powerful tools and was easy to use, whereas SPSS is for non-programmers and R need programming skills. I am wondering what other people think is best? or there might not be one specific language but a few that lend themselves best to Bio-informatics work that is math heavy and deals with a large amount of data.

Smyth Lab

Sun, 14 Jul 2013 12:26:18 -0500

Statistical functional genomics in experimental medicine
The genome projects and the accelerated development of high-throughput genomic technologies such as microarrays have revolutionised biology. Making the most of this revolution requires the marriage of researchers from mathematical and biological backgrounds.

Research Area:
Linear models for microarray data
Digital gene expression technologies
Detection of molecular pathways
Bioinformatics resources for medical research

Link @ http://www.wehi.edu.au/faculty_members/professor_gordon_smyth/