BOL: Related items

liftover

Jitendra Narayan — Mon, 08 Feb 2016 15:45:03 -0600

Convenient conversions between genome assemblie. The liftover package makes it easy to remap genomic coordinates to a different genome assembly.

More at https://github.com/aaronwolen/liftover

https://www.bioconductor.org/help/workflows/liftOver/

Address of the bookmark: https://github.com/aaronwolen/liftover

SATSUMA : Highly sensitive whole-genome synteny alignments.

Jit — Fri, 13 May 2016 05:25:26 -0500

Satsuma is a whole-genome synteny alignment program. It takes two genomes, computes alignments, and then keeps only the parts that are orthologous, i.e. following the conserved order and orientation of features, such as protein coding genes, non-coding genes, or neutral sequences. Satsuma does not require any pre-processing, such as repeat masking, since it will automatically detect ambiguous mappings.

Satsuma has parallelization built-in and is designed to run on multi-core architectures. The run-time for aligning two bird-size genomes (~1.2 Gb) is around two days on 24 CPUs.

You can find the manual here.
Download the latest source code from here.
Stable versions can also be downloaded from the Broad Institute's web site.

An incomplete list of questions and answers (yes, these have really been asked by our users! Please feel free to add your own by e-mailing us) is here.

If you use Satsuma in your research, please cite:
Grabherr, M. G., Russell, P., Meyer, M., Mauceli, E., Alföldi, J., Di Palma, F., & Lindblad-Toh, K. (2010). Genome-wide synteny through highly sensitive sequence alignment: Satsuma. Bioinformatics, 26(9), 1145-51.

Tutorial at http://evomics.org/learning/genomics/satsuma/

Address of the bookmark: http://satsuma.sourceforge.net/

DIYA: a bacterial annotation pipeline for any genomics lab

Jit — Fri, 30 Jun 2017 08:48:26 -0500

DIY Genomics is an open source bioinformatics consortium intended to bring a collection of tools and libraries into the hands of small scale genomics labs for the process of sequence assembly and annotation. Projects include DIYA, MGAP, CRISPR, and DIYGV

http://gmod.org/wiki/Diya

Address of the bookmark: https://sourceforge.net/projects/diyg/

ShendureLab

Thu, 28 Dec 2017 09:57:50 -0600

The mission of our lab is to develop and apply new technologies and methods for genetics, genomics and molecular biology. Most of our work exploits next-generation DNA sequencing which is effectively emerging as a broadly enabling microscope for the measurement of biological phenomena. Our ongoing work generally falls into six areas. These are listed below as links to representative publications in each area.

Developing New Molecular Methods

Genomic Approaches to Developmental Biology

Massively Parallel Functional Genomics

Translating Genomics to the Clinic

Genetic Basis of Human Disease

Genome Sequencing Technologies

http://krishna.gs.washington.edu/index.html
http://www.gs.washington.edu/faculty/shendure.htm

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

Senior Scientist bioinformatics @ Eurofins Genomics India Pvt Ltd, Bengaluru.

Sat, 14 Aug 2021 13:17:36 -0500

Eurofins hiring @ Eurofins Genomics India Pvt Ltd, Bengaluru.

Designation: Senior Scientist bioinformatics
Experience: 8-9 years of experience in bioinformatics analysis of various NGS applications such as WGS, RNASeq, Metagenome, small RNA.

Location: Bangalore

Roles & Responsibilities:
-Develop NGS pipeline for analysis and interpretation of NGS data
-Organizing and managing large scale genomic data
-Should have experience in NGS data analysis, such as WGS, RNASeq, Small RNA, Metagenome (16S, ITS, Whole metagenome)etc.
-Should also have good programming skills in perl or python, PHP,J Query, MySql.
-Manage project timelines and deliverables.
-Implement and execute data processing workflows and automate the pipelines.

If you are interested, please send your profile to me at arpitaghosh@eurofins.com with “Senior Scientist bioinformatics for Genomics” as the subject.

Bioinformatics Head (Bioinformatics Manager III), Cancer Genomics Research Laboratory at Frederick National Laboratory

Wed, 18 Aug 2021 00:19:48 -0500

Frederick National Laboratory seeking an enthusiastic, creative, and seasoned bioinformatics professional to join our leadership team and direct the exceptional Bioinformatics Group at the Cancer Genomics Research Laboratory (CGR). CGR has a diverse team of bioinformatics and computational scientists that support all areas of bioinformatics and data analysis (infrastructure, data QC, pipeline development and maintenance, data curation and sharing, methodology development, statistical analyses, machine learning approaches, and scientific interpretation).

More at https://leidosbiomed.csod.com/ats/careersite/jobdetails.aspx?site=4&c=leidosbiomed&id=2040

Scientist positions @ CSIR-Institute of Genomics & Integrative Biology (IGIB)

Sat, 02 Dec 2023 00:51:08 -0600

CSIR-Institute of Genomics & Integrative Biology (IGIB) is a premier Institute of Council of Scientific
and Industrial Research (CSIR), engaged in research of national importance in the areas of genomics,
molecular medicine, bioinformatics and proteomics. For more details, kindly refer to website
https://igib.res.in.
The Institute is looking for dynamic and creative Indian researchers having excellent academic record
and interested in Product Development / Technology Innovation / Applied Technology / Translational
Research in the above broad areas. The eligible candidates may apply for the following positions
through the CSIR-IGIB website.

More at https://www.igib.res.in/bdmg/ScientistRecruitmentAdvt2023.pdf

NVIDIA and Arc Institute Unveil Evo 2: A Breakthrough AI for DNA Design

BioStar — Fri, 21 Feb 2025 10:39:47 -0600

NVIDIA and the Arc Institute have introduced Evo 2, a groundbreaking AI model designed to understand, predict, and generate DNA sequences. This marks a major advancement in computational biology, offering scientists an unprecedented tool to decode the genetic blueprint of life and even design entirely new biological systems.

The Power of Evo 2: AI Meets DNA

Evo 2 is the largest AI model for biology ever created, trained on an astonishing 9.3 trillion DNA "letters" (nucleotides) carefully selected from genomes spanning the entire tree of life. This massive dataset ensures that Evo 2 can recognize patterns and relationships in genetic sequences at an unparalleled scale.

For the first time, scientists can design DNA with AI, moving beyond simple sequence analysis to active DNA generation. Evo 2 enables researchers to predict, modify, and even create entire genetic sequences, opening new possibilities in medicine, agriculture, and synthetic biology.

Decoding the Dark Genome

One of the biggest challenges in genetics is understanding the non-coding regions of DNA—vast stretches of the genome that do not code for proteins but play crucial roles in regulating gene expression. These regions control when and how genes are activated, influencing everything from development to disease.

Evo 2 is designed to decode these non-coding elements, helping researchers uncover their functions and use this knowledge to develop gene-based therapies, synthetic life forms, and precision agriculture solutions.

From Reading DNA to Writing It

To put Evo 2’s impact into perspective:

Previous AI models could "read" DNA like a book, analyzing genetic sequences and identifying patterns.
Evo 2 can "write" entirely new DNA, designing functional genes, chromosomes, and even full genomes from scratch.

This means scientists can now engineer biological systems with AI, designing new proteins, metabolic pathways, and genetic circuits to address real-world challenges.

A Step Toward Generative Biology

The Arc Institute describes Evo 2 as a major step toward "generative biology"—a revolutionary approach where AI is used to create novel biological structures rather than just analyzing existing ones. This could lead to breakthroughs such as:

New medicines: AI-generated enzymes and proteins tailored for targeted therapies.
Disease-resistant crops: Genetically optimized plants for higher yield and climate resilience.
Synthetic organisms: Custom-designed microbes for bioremediation, biofuel production, and industrial applications.

An Open-Source Revolution

Unlike many proprietary AI models, Evo 2 is open source, making its capabilities accessible to researchers worldwide. This democratization of AI-driven biology means that scientists from different disciplines can collaborate, experiment, and innovate, accelerating discoveries in genetic engineering and synthetic biology.

With Evo 2, the boundaries of what’s possible in DNA design, genetic engineering, and biological innovation are being redrawn. The future of life sciences is no longer just about understanding life’s code—it’s about writing it.

Precision Medicine

Rahul Agarwal — Sat, 24 Aug 2013 15:47:03 -0500

Coupling established clinical–pathological indexes with state-of-the-art molecular profiling to create diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient's requirements — hence the term “Precision medicine”

Source:http://www.nejm.org/doi/full/10.1056/NEJMp1114866

Another video on precision medicine:

http://www.youtube.com/watch?v=Pi8W0yOXnzE

Precision Medicine basically intergrates bioinformatics, genomics , genetics, molecular biology and nanotechnology to deliver precise cure/diagnotics to a specific patient.

Examples:

The drug imatinib (Gleevec) designed to inhibit an altered enzyme produced by a fused version of two genes found in chronic myelogenous leukemia.
The breast cancer drug trastuzumab (Herceptin) works only for women whose tumors have a particular genetic profile called HER-2 positive.

E.g. source :

http://www.bionews-tx.com/news/2013/08/15/how-the-impact-of-cancer-genomics-on-precision-medicine-is-revolutionizing-cancer-treatment/

Address of the bookmark: http://www.cbsnews.com/video/watch/?id=50149783n