MAPLE: A phylogenetic tool for pandemic-scale genome data
Medical Xpress
APRIL 11, 2023
With the huge abundance of genomic data generated from life science experiments, processing large datasets remains a challenge in the field of bioinformatics.
Personalising whole genome sequencing doubles diagnosis of rare diseases
Drug Discovery World
NOVEMBER 7, 2022
A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. Context .
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Bioinformatic exploration of perivascular space discovers 24 genomic risk loci
Medical Xpress
APRIL 20, 2023
An international team of 79 researchers have collaborated on a study published in Nature Medicine to delve into perivascular spaces (PVS), a poorly understood artifact seen in magnetic resonance imaging of cerebral small vessel disease, a leading cause of stroke and dementia.
Bioinformatics Jobs: How to Succeed in This Competitive Space
XTalks
APRIL 5, 2021
Bioinformatics jobs are commonly found in the fields of computer information science, pharmaceuticals, biotechnology, medical technology, computational biology, proteomics and medical informatics. The Human Genome Project could not have succeeded without the use of bioinformatics. Bioinformatics Analyst. Job Description.
64 human genomes as new reference for global genetic diversity
Scienmag
FEBRUARY 25, 2021
Publication in Science Credit: David Porubsky, University of Washington In 2001, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. This reference, however, […].
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The diploid genome assemblies in marmoset shows huge variations
Scienmag
APRIL 28, 2021
In collaboration with VGP, the research group has published a research paper in Nature on platypus and echidna genomes early this year (see report in the right column).
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Scienmag
MAY 19, 2021
Proprietary bioinformatics, paired with comprehensive clinical curation results in reporting that defines clinically actionable, FDA-approved, and clinical trial drug options for the management of the patient’s cancer.
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Barley pan-genome: IPK scientists reach milestone on the way to ‘transparent’ barley
Scienmag
NOVEMBER 25, 2020
Credit: Photo: IPK Leibniz Institute/ Andreas Bähring In order to record all genetic information of an individual, its genome must be completely decoded. IPK scientists and international partners for barley already succeeded in doing this three years ago (Mascher et al.
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Genome sequencing accelerates cancer detection
Scienmag
SEPTEMBER 7, 2020
Researchers have developed a statistical model that uses genomic data to predict the risk of developing cancer of the oesophagus Credit: Spence Phillips / EMBL-EBI Oesophageal cancer is the eighth most common cancer worldwide. It often develops from a condition called Barrett’s oesophagus.
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New Bioinformatics Solution Powers Multi-Omics Discovery at Massive Scale
BioTech 365
JANUARY 11, 2021
New Bioinformatics Solution Powers Multi-Omics Discovery at Massive Scale New Bioinformatics Solution Powers Multi-Omics Discovery at Massive Scale Illumina Connected Analytics: Connect, see, and read data directly in the cloud SAN DIEGO–(BUSINESS WIRE)–Illumina, Inc.
CancerVar: A New Bioinformatics Tool Developed for Clinical Interpretation of Cancer Mutations
XTalks
MAY 10, 2022
On Saturday, researchers at the Children’s Hospital of Philadelphia (CHOP) have announced that they developed and launched a new bioinformatics software tool called CancerVar (cancer variant interpretation). Li, MD, Professor of Pathology and Laboratory Medicine, Director of Cancer Genomic Diagnostics. What is CancerVar?
Genomic analysis reveals many animal species may be vulnerable to SARS-CoV-2 infection
Scienmag
AUGUST 21, 2020
An international team of scientists used genomic analysis to compare the main cellular receptor for the virus in humans — angiotensin converting […].
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Landmark study details sequencing of 64 full human genomes to better capture genetic diversity
Scienmag
FEBRUARY 25, 2021
Scott Devine, PhD 64 human genomes sequenced will serve as new reference for genetic variation and predisposition to human diseases Credit: NIH Researchers at the University of Maryland School of Medicine (UMSOM) co-authored a study, published today in the journal Science, that details the sequencing of 64 full human genomes.
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Reference genome comparison finds exome variant discrepancies in 206 genes
Scienmag
JUNE 14, 2021
HOUSTON – (June 14, 2021) – In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing.
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Inferring human genomes at a fraction of the cost promises to boost biomedical research
Scienmag
JANUARY 13, 2021
To discover these associations, researchers need to compare the genomes of many individuals at millions of genetic locations or markers, and therefore require cost-effective genotyping technologies. A new statistical method, developed […].
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New informatics software helps identify rare genetic variants
Medical Xpress
NOVEMBER 8, 2022
A team of researchers at Indiana University School of Medicine has developed specialized bioinformatics software designed to identify rare genetic variants in whole-genome sequencing studies. Zilin Li, Ph.D.,
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SSRgenotyper: A new tool to digitally genotype simple sequence repeats
Scienmag
FEBRUARY 4, 2021
SSRgenotyper: A simple sequence repeat genotyping application for whole-genome resequencing and reduced representational sequencing projects. Jarvis, and P.
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McIndoe leading $6.2 million innovative research initiative
Scienmag
JUNE 28, 2021
McIndoe, bioinformatics expert and associate director of the Center for Biotechnology and Genomic Medicine at the Medical College of Georgia, is leading a dynamic, new $6.2 Credit: Michael Holahan, Augusta University Dr. Richard A.
For bacteria, a small genome means some serious decluttering — even in the ribosome
Scienmag
AUGUST 11, 2020
Researchers from Skoltech, Lomonosov Moscow State University, and the Kharkevich Institute for Information Transmission Problems have studied the genomes of some 200 strains of bacteria to determine which proteins in the ribosome, part of the key cell machinery, can be safely lost and why.
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Scientific data management: What does your lab need?
Drug Discovery World podcast
MARCH 25, 2022
The articles are called “The benefits of bioinformatics in genomics sequencing” and “LIMs vs ELNs – what does your lab need?”, Dr Bongcho Kim is the new CEO of Macrogen Europe, a Netherlands-based provider of genomic sequencing services. for which Part I and Part II were published separately across DDW issues. .
Clinical Microbiomics makes third acquisition in 18 months
Drug Discovery World
MARCH 4, 2024
Clinical Microbiomics has acquired DNASense, a Danish microbiome clinical research organisation (CRO) specialised in long-read DNA and RNA sequencing technologies and bioinformatics. The acquisition adds long-read DNA and RNA sequencing technologies to Clinical Microbiomics’ multi-omics technologies for the microbiome field.
Ukraine genome survey adds missing pieces to human diversity puzzle
Scienmag
JANUARY 13, 2021
International Ukraine Genetic Diversity Project finds a quarter of the genetic variation in Europe, dramatically increasing information on population diversity and medical genetic variation Credit: Oakland University Today, the largest study of genetic diversity in Ukraine was published in the open science journal GigaScience.
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This week in drug discovery (13-17 February)
Drug Discovery World
FEBRUARY 17, 2023
The drug discovery sector is feeling the love this Valentine’s week, with several new research collaborations bringing together a range of expertise and advanced bioinformatics, automation and artificial intelligence technologies to speed up the development of new treatments.
WHO launches global network to detect and prevent infectious disease threats
The Pharma Data
MAY 22, 2023
WHO launches global network to detect and prevent infectious disease threats WHO and partners are launching a global network to help protect people from infectious disease threats through the power of pathogen genomics. COVID-19 highlighted the critical role pathogen genomics plays in responding to pandemic threats.
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Digitalising drug discovery
pharmaphorum
MARCH 19, 2021
on Big data: astronomical or genomical? , by 2025 more than 500 million human genomes will be sequenced, creating more data than YouTube and Twitter combined. According to an article by Stephens, Zachary D., The post Digitalising drug discovery appeared first on.
How Will Ultima Genomics and Genome Insight Make WGS Affordable?
XTalks
APRIL 21, 2023
The application of whole genome sequencing (WGS) to derive a more complete understanding of cancer has been a central goal of cancer researchers even before the first human genome was decoded in 2003. Ultima Genomics has already partnered with other leading biotech startups.
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Guide to using AAV vectors in gene therapy
Drug Discovery World
FEBRUARY 8, 2024
Andrea O’Hara, PhD, Strategic Technical Specialist, Azenta Life Sciences led the presentation and was joined by Elizabeth Louie, PhD, Supervisor, Technical Applications, Xiangying Mao, PhD, Team Lead, Bioinformatics, and Crystal Richardson, PhD, Business Partnership Manager – all Azenta Life Sciences – for the questions section.
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Brotman Baty Institute working with Illumina and GeneDx on whole-genome sequencing study
Scienmag
APRIL 28, 2021
Supporting families of children with developmental differences SEATTLE and GAITHERSBURG, MD. April 28) – The University of Washington’s School of Medicine Brotman Baty Institute for Precision Medicine is collaborating with Illumina, Inc. Nasdaq: ILMN) and GeneDx, Inc., a wholly owned subsidiary of BioReference Laboratories, Inc.,
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New approach to diagnosing genetic diseases using RNA sequencing increases yield
Scienmag
OCTOBER 27, 2020
In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.
New tool enables easy, effective disease tracking
Scienmag
OCTOBER 15, 2020
Scientists in Cambodia have used the new IDseq tool to confirm and sequence the whole genome of the country’s first case of COVID-19 Credit: IDseq.net 15th October 2020, Hong Kong: Published today in the journal GigaScience is a new open source, cloud-based tool called IDseq that makes it possible to rapidly detect, identify, and track […]. (..)
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The future of AI drug discovery & development in immunology and GPCR research
pharmaphorum
SEPTEMBER 16, 2022
Essentially, the collaboration brought together both “the right expertise and the right technology”, opening up myriad possibilities for targeting GPCRs within the human genome. Verily’s Immune Profiler can, Kim asserted, “generate more than 8 million immune measures across 24 immune cell subsets”. What, then, is the solution?
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How Phosphorus’ GeneCompass Preventative Genetic Test Can Help People Manage Their Health
XTalks
JULY 19, 2021
Phosphorus, a leading preventative genomics company, has developed the first comprehensive preventative genetic test for consumers. Like other consumer genomic tests, the Phosphorus GeneCompass test also involves the collection of saliva samples that consumers send to the Phosphorus lab located in Secaucus, NJ for analysis.
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Guide to using AAV vectors in gene therapy
Drug Discovery World
OCTOBER 3, 2023
Andrea O’Hara, PhD, Strategic Technical Specialist, Azenta Life Sciences led the presentation and was joined by Elizabeth Louie, PhD, Supervisor, Technical Applications, Xiangying Mao, PhD, Team Lead, Bioinformatics, and Crystal Richardson, PhD, Business Partnership Manager – all Azenta Life Sciences – for the questions section.
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Drug discovery’s senior appointments for Q4
Drug Discovery World
NOVEMBER 30, 2023
Genomics company Broken String Biosciences has expanded its senior leadership team with the appointments of Vincent Smith as Chief Technology Officer, Jessica Rich as VP Business Development, and Gavin Burns as Vice President of Quality and Operations. Enhanc3D Genomics has appointed Hazel Jones as its new Chief Operating Officer.
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Sensyne, Oxford University deploy AI to find asthma targets
pharmaphorum
AUGUST 10, 2021
The three-year project – led by respiratory medicine expert Dr Timothy Hinks from the Oxford University Respiratory Medicine Unit – will use whole-genome sequencing of around 500 patients with severe asthma, comparing their gene sequences with control subjects who don’t have asthma.
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Start-up hopes to boost production of viral vectors for ATMPs
Drug Discovery World
MAY 16, 2023
NewBiologix uses next-generation sequencing (NGS)-based genome characterisation to develop a proprietary bioinformatics platform designed to improve cell line capabilities for the expression and production of ATMPs.
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PanOmics: Advancing drug discovery
Drug Discovery World
OCTOBER 26, 2023
While we are using standard commercially available processes for genomics, we have invested massively into high-throughput and high-resolution transcriptomics, proteomics, and metabolomics methods. The technologies cover the whole range of biomolecules from genes to protein to metabolites.
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International award for IPK scientist Nils Stein
Scienmag
APRIL 23, 2021
Dr. Nils Stein will be awarded a medal from the Royal Physiographical Society in Lund for his significant and pioneering contributions to the field of cereal genomics,” explains Prof. Credit: IPK Leibniz Institute/ Andreas Bähring “Prof.
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5000i – Faster Scale-up of Fermentation Processes
The Pharma Data
MARCH 20, 2021
The Kluyver Center for Genomics of Industrial Fermentation in Delft, Holland, is a consortium of several different Universities and Research Centres. Microbial genomics. The Kluyver Center applies microbial genomics to improve the performance of microorganisms in industrial fermentation processes. Scope of possible application
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San Diego zoo global biobanking advances wildlife conservation and human medicine worldwide
Scienmag
NOVEMBER 12, 2020
In a study that has unprecedented implications to advance both medicine and biodiversity conservation, researchers have sequenced 131 new placental mammal genomes, bringing the worldwide total to more than 250 In a study that has unprecedented implications to advance both medicine and biodiversity conservation, researchers have sequenced 131 new placental (..)
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Partners hope to “chart a new era of drug discovery”
Drug Discovery World
FEBRUARY 17, 2023
A new multi-year strategic partnership between M2GEN and Zephyr AI will leverage clinicogenomic data, bioinformatics, and artificial intelligence to accelerate drug discovery and expanded use cases for oncology treatments.
The future of genomic medicine: can it fulfil its promises?
pharmaphorum
SEPTEMBER 14, 2020
Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential. I saw this, in particular, with the finishing of the human genome,” says Charlie. “At In reality, finishing the human genome was the first step of what is a long journey.”.
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