BOL: Related items

COSMIC

Jit — Sat, 01 Oct 2016 15:04:10 -0500

The accurate description and annotation of structural variants can be complex. This is due to the different resolution that variants are reported from traditional cytogenetic coordinates down to the actual base pair positions. Furthermore, multiple rearrangements in a single area of the genome can make cataloguing and interpreting their effects challenging.

The Rearrangement Overview page describes the one or more breakpoints which make up a structural variant. A breakpoint is defined as a region or point where the sample sequence has altered from the reference sequence. Minimum interpretation is made of this data. One variant event can consist of one or multiple breakpoints. The Syntax (shown above the table) gives a detailed description of the variant and its location (e.g. chr11:g.36585230_76606619del, a deletion of roughly 40Mb on chromosome 11). Syntax is based on HGVS mutation nomenclature recommendations [http://www.hgvs.org/rec.html].

http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview

Address of the bookmark: http://cancer.sanger.ac.uk/cosmic/help/rearrangement/overview

IBL laboratory

Mon, 12 Aug 2013 02:02:29 -0500

The IBL laboratory focuses on the multi-disciplinary analyses of the global responses of model microorganisms, cyanobacteria (mainly Synechocystis PCC6803) and yeasts (mainly Saccharomyces cerevisae) to environmental stresses triggered by oxidative agents, heavy metals, or drastic changes in nutrients availability. The genome-wide responses studied with the "omics" techniques (transcriptomics, proteomics, metabolomics and genetics) generate a wealth of experimental data, which are processed, archived, integrated and represented as working models through bioinformatics and mathematics.

Link : http://www-dsv.cea.fr/en/instituts/institut-de-biologie-et-de-technologies-de-saclay-ibitec-s/unites-de-recherche/service-de-biologie-integrative-et-genetique-moleculaire-sbigem/laboratoire-de-biologie-integrative-lbi/presentation__1

Personalised Medicine - Animation

Tue, 27 Aug 2013 10:07:24 -0500

Two animated case scenarios set now and in the future. These highlight potential differences in the way patients are treated now, and how they might be treated as healthcare becomes more tailored.

33rd Annual Convention of Indian Association for Cancer Research from 13th to 15th February 2014

Tue, 27 Aug 2013 10:37:08 -0500

RGCB is organizing the 33rd Annual Convention of Indian Association for Cancer Research from 13th to 15th February 2014 with the theme "Discovery, Innovation and Translation in Cancer Research"

Kindly log on to conference website http://rgcb.res.in/IACR2014 for further details and timely updates and registration. We shall truly appreciate if the same be circulated among your friends, scholars and students encouraging them to participate in the meet.

http://210.212.237.38/iacrconference/

Research Associate Bioinformatics in IISc Recruitment 2020

Tue, 23 Jun 2020 21:53:34 -0500

Research Associate Bioinformatics in IISc Recruitment 2020

Essential Qualifications: Ph.D. (Bioinformatics/ Biophysics/ Biotechnology or any other stream of biological/ physical sciences) with a minimum of two publications in reputed peer reviewed journals in the area of structural bioinformatics or biophysics or biomolecular modeling/ simulation.

Job description: Development of bioinformatics tools and algorithms/software for structure based analysis of biomolecular systems. Programmatic access to major biomolecular databases using APIs Knowledge based prediction and analysis of biomolecular structure, function and interactions. Docking/simulations for inhibitor design.

Desirable Qualifications (Research Associate/s): i) Strong computer programming skills (in Python/PERL/PHP or C++ or object oriented database management systems like MySQL etc or scripting languages under LINUX/UNIX environment).

ii) Extensive experience in computational analysis of biomolecular structure/interactions and usage of advanced biomolecular simulation softwares. iii) Adequate knowledge of major databases, webservers and softwares in the area of biomolecular structure/function and drug design. iv) Familiarity with Parallel Programming environments and experience in usage of high-end HPC clusters.

The candidates must highlight their experience in above mentioned fields/topics in their CV. Initial appointment will be for a period of 1 year, subject to extension after review of performance.

Emoluments: As per DST, GOI norms and commensurate with experience.

More at https://www.iisc.ac.in/positions-open/

Huber Lab

Mon, 09 Sep 2013 21:57:03 -0500

The Huber group develops computational and statistical methods to design and analyse novel experimental approaches in genetics and cell biology.

Future projects and goals

Large-scale systematic maps of gene-gene and gene-environment interactions by automated phenotyping, using image analysis, machine learning, sparse model building and causal inference.
DNA-, RNA- and ChIP-Seq and their applications to gene expression regulation: statistical and computational foundations.
Cancer genomics, genomes as biomarkers, cancer phylogeny.
Image analysis for systems biology: measuring the dynamics of cell cycle and of cell migration of individual cells under normal conditions and many different perturbations (RNAi, drugs).

More @ http://www.embl.de/research/units/genome_biology/huber/index.html

Human Genome Meeting 2014, Geneva, Switzerland

Fri, 20 Sep 2013 12:36:44 -0500

The spectacular advances of the last few years resulted in the rapid analysis of the genome sequence of each individual. The biomedical world is now faced with the enormous challenges of assigning pathogenicity to each genomic variant, the functional analysis of the genome of each individual, and the accurate and detailed phenotypic characterization. Advances in these challenges are likely to fundamentally change the medical practice in a global scale.

This 2014 HUGO Meeting in Geneva will be a Forum for discussions on innovative approaches, and proposals to tackle the anticipated challenges.

Time : 27 April 2014 - 30 April 2014

For enquiries, please email hugo2014@mci-group.com or visit www.hugo-international.org

More at http://www.hgm2014-geneva.org/

Mike Ritchie Lab

Wed, 02 Oct 2013 15:25:45 -0500

Mike Ritchie Lab primary research focus is the detection of susceptibility genes for common diseases such as cancer, diabetes, hypertension, and cardiovascular disease, among others. The approaches will involve the development and application of new statistical methods with a focus on the detection of gene-gene interactions associated with human disease.

Gene expression and protein expression patterns between normal and non-normal tissues is a growing area of research that may lead to the identification of candidate genes for understanding the etiology of common, complex diseases.

Lab homepage @ http://ritchielab.psu.edu/ritchielab/

Postdoc in Comparative Single Cell Genomics at University of Basel

Fri, 06 Dec 2024 23:41:20 -0600

A fully funded 4-year Postdoc position is available in the lab of Patrick
Tschopp at the University of Basel, Switzerland, study the molecular and
tissue-scale dynamics during the embryonic formation of the vertebrate
skeleton and compare it across different vertebrate species with distinct
habitats.

We are looking for a highly motivated candidate with a PhD degree in
Bioinformatics or a related field. Candidates are expected to have a
strong background in evolutionary biology and/or comparative functional
genomics. Additional experiences in single cell functional genomics
analyses, statistics and computational data analyses are a plus, as is
an interest in comparative developmental (EvoDevo) questions.

We offer a dynamic and interactive research environment with state-of-the
art research facilities, good research funding and internationally
competitive salaries.

The Tschopp lab (www.evolution.unibas.ch/tschopp/research/)
studies the gene regulatory mechanisms of cell type
specification and evolution in vertebrates. See also our
preprints at https://doi.org/10.1101/2024.03.26.586769 and
https://doi.org/10.1101/2024.11.28.625862 Applications should include
a motivation letter, a CV, a list of publications, a statement about
research interests, as well as the names and contact details of at
least two referees. Applications (in the form of a single .pdf file)
should be sent to Patrick Tschopp (patrick.tschopp@unibas.ch); review
of applications will begin on January 1st 2025, and will continue until
the position is filled.

Patrick Tschopp

Postdoctoral Fellow in Genomics and Comparative Genomics

Thu, 09 Apr 2026 02:12:32 -0500

Environnement de travail (Work environment):
The successful candidate will join a dynamic research group working
on the ecology and evolution of host'parasite'environment
interactions in non-model organisms, particularly snail vectors and
its trematode parasites. She/He will conduct genomic analyses aimed at
understanding host'parasite coevolution and the genetic architecture
of resistance in the invasive snail Pseudosuccinea columella to the
zoonotic parasite Fasciola hepatica. This thematic line is embedded
within the regional scientific project InvaSnail financed by the
ExposUM initiative from the Montpellier. The position is based in
Montpellier, a vibrant scientific hub in Southern France internationally
recognized for excellence in ecology and evolutionary biology. The IHPE
laboratory provides a collaborative research environment with access
to high-performance computing facilities, sequencing platforms, and
strong interdisciplinary interactions across research institutions in
the Montpellier area. University

Main mission:

Develop and implement strategies for whole-genome sequencing of non-model
species
Generate high-quality de novo genome assemblies using short- and long-read
sequencing technologies
Perform genome annotation and structural/functional characterization
Conduct comparative genomic analyses across related species or populations
Design and implement genome-wide association studies (GWAS) to identify
loci associated with phenotypic or adaptive traits
Integrate genomic, phenotypic, and environmental datasets
Contribute to the development of reproducible bioinformatics pipelines

Lead the genomic component of the research project
High-molecular-weight DNA extraction optimization
Long-read genome assembly (PacBio HiFi / ONT)
Genome polishing and quality assessment (BUSCO, QUAST)
Structural and functional annotation
Variant discovery (SNPs, indels, SVs)
Population genomic analyses (FST, demographic inference)
Mixed-model GWAS accounting for structure
Workflow development (Snakemake/Nextflow)
HPC-based pipeline implementation
Publish results in peer-reviewed journals
Present findings at international conferences
Collaborate with experimental and computational team members
Contribute to project development
Mentor graduate students when appropriate

More at https://evol.mcmaster.ca/brian/evoldir/PostDocs//MontpellierU.ComparativeGenomics