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.
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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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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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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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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.
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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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. But to understand the genetic information of the entire barley species, much more […].
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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.
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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Inferring human genomes at a fraction of the cost promises to boost biomedical research
Scienmag
JANUARY 13, 2021
Credit: Delaneau Group Thousands of genetic markers have already been robustly associated with complex human traits, such as Alzheimer’s disease, cancer, obesity, or height.
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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. The test is called GeneCompass and features medical-grade technology to provide a holistic assessment of genetic health and wellness. The Phosphorus GeneCompass test has a list price of $249.
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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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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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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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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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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.
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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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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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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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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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. Dr Timothy Hinks.
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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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Mount Sinai researchers develop COVID-19 mortality prediction model
Scienmag
SEPTEMBER 22, 2020
Credit: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Bottom Line: Given the toll that the COVID-19 pandemic has taken on people’s health and lives worldwide, it is crucial to be able to accurately predict patients’ outcomes, including their chances of mortality from the disease.
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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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TGen identifies gene that could explain disparity in COVID-19 effects
Scienmag
DECEMBER 16, 2020
15, 2020 — The Translational Genomics Research Institute (TGen), an affiliate of City of Hope, has identified a specific genetic target that could help explain the tremendous variation in how sick those infected with COVID-19 become. Comparative analysis of human and animal coronaviruses strains implicates miR1307 PHOENIX, Ariz.
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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.
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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The future of genomic medicine: can it fulfil its promises?
pharmaphorum
SEPTEMBER 14, 2020
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. 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.
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Sandoz, Ares extend digital alliance on antimicrobial resistance
pharmaphorum
APRIL 7, 2022
Novartis’ generics unit Sandoz has moved on to the next stage of a collaboration with Ares Genetics, which is focusing on the use of artificial intelligence to track antimicrobial resistance (AMR), improve diagnoses and guide the most effective use of antibiotics. “AMR, which is now estimated to directly account for nearly 1.3
Open science, genomics, and the quiet revolution in our approach to pharma
Drug Discovery World
JULY 19, 2023
Evan Floden , CEO of Seqera Labs examines how data sharing platforms are impacting cancer and genomics research. Increasingly, major collaborative life sciences projects, like the Human Genome Project or Human Cell Atlas, are driving advancements and organisations – both public and private – are taking note.
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Who are the AACR Scientific Achievement Award winners?
Drug Discovery World
APRIL 14, 2023
He is being recognised for his revolutionary contributions to developing the first gene-edited cell-based therapy for cancer that involves the genetic re-engineering of a patient’s own T cells to combat their disease, and for demonstrating that adoptive T-cell therapy can induce remission and in some cases cure patients with advanced cancer.
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Big data – charting a new path to drug discovery and development
Drug Discovery World
JULY 11, 2023
Now, with the growth of publicly available genomics, transcriptomics, and proteomics databases, the ability to quickly carry out large-scale DNA, RNA, and protein screenings, and the availability of massive sets of de-identified patient data, the amount of high-value, analysable data has reached enormous proportions.
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The microbiome in precision medicine
Drug Discovery World
JULY 26, 2023
With 100-fold the number of genes in the human genome 1 , this microbial collection is a rich genetic signature of clinical significance that we have only recently gained the tools to explore. Collectively, these systems biology bioinformatic puzzles often require partnerships to solve.
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Clinical Scientist Jobs: The Steps to Succeed in This Role
XTalks
MAY 20, 2022
There are different fields to explore as a clinical scientist — these include clinical bioinformatics, physiological sciences, pathology, medical physics and more. Genetic Science. In addition, strong mathematical and analytical skills will strengthen your profile as clinical scientist. Clinical Pharmaceutical Science. Microbiology.
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The Utility of Liquid Biopsy in Oncology Clinical Trials
XTalks
NOVEMBER 7, 2022
These tumor-derived entities are used to derive genomic and proteomic data. Dr. Bahassi explained that technological advances in genetic sequencing of cfDNA have enabled liquid biopsies and led to marked increase in the detection of therapeutically-targetable mutations. Optimal methods for bioinformatic analysis are still needed.
Top 10 Fastest Growing Biotech Companies in 2023
XTalks
DECEMBER 13, 2023
3) Fulgent Genetics Compound annual growth rate: 260 percent Fulgent Genetics, headquartered in California, is a technology-driven company with a strong presence in clinical diagnostics and therapeutic development. The company achieved core revenues of $67 million, reflecting a remarkable 48 perecent year-over-year growth.
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The use-case for NGS
Drug Discovery World
OCTOBER 25, 2023
There are two main concepts underlying this impact; we’ve known for a few years now that people can have variable responses to the same medication and that these responses are largely based on an individual’s genetic makeup. NGS is becoming invaluable for treating individual cancer patients based on their tumour’s genetic makeup.
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Democratising proteomics for cancer and beyond
Drug Discovery World
APRIL 14, 2023
At the beginning of 2023, proteomics company Nautilus Biotechnology announced a partnership with the Translational Genomics Research Institute (TGen), to study the specific proteins at work in the rare and often fatal childhood cancer, diffuse intrinsic pontine glioma (DIPG). BMC Bioinformatics. 2013;14 Suppl 2(Suppl 2):S24.
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How big data analytics can make personalised care a reality
Drug Discovery World
FEBRUARY 6, 2023
Johannes Goll, Global Head of Emmes’ Biomedical Data Science and Bioinformatics department, explains how big data analytics can deliver improved therapies and bring clinical research one step close to realising the potential of personalised care.
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Could elephant genes hold the key to avoiding cancers?
Drug Discovery World
JULY 29, 2022
Scientists from seven research institutions including the University of Oxford and the University of Edinburgh have used pioneering bioinformatic modelling to investigate the molecular interactions of the p53 protein known to give protection against cancers.
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