Genome analysis and knowledge-driven variant interpretation with TGex
Taken from magazine: BMC Medical Genomics ISSN: 1755-8794

Genome analysis and knowledge-driven variant interpretation with TGex

We present TGex, the Translational Genomics expert, a novel genome variation analysis and interpretation platform, with remarkable exome analysis capacities and a pioneering approach of non-coding variants interpretation.

TGex is now a part of Geneyx – an integrated genomic and clinical data software suite. and available as “Geneyx Analysis” at https://analysis.geneyx.com Abstract Background The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes and to identify the most relevant genetic variations […]

HOW LABS CAN ADD VALUE FOR PROVIDERS, INSURERS, PHARMA
Taken from magazine: The Dark Intelligence Group

HOW LABS CAN ADD VALUE FOR PROVIDERS, INSURERS, PHARMA

Using Lab Data to Generate New Sources of Revenue

CEO SUMMARY: For pathologists and clinical, molecular, and genetic testing labs, appropriate reuses of lab data can provide a new source of revenue. Labs that serve as preferred providers of diagnostic testing data can help health systems, ordering physicians, pharmaceutical companies, and other organizations when they reuse lab test data to support evidence-based care and […]

How countries are using genomics to help avoid a second coronavirus wave

How countries are using genomics to help avoid a second coronavirus wave

Scientists in New Zealand, the United Kingdom and other places are using sequence data to track new infections as lockdowns ease.

Credit: Lisa Maree Williams/Getty As many countries emerge from lockdowns, researchers are poised to use genome sequencing to avoid an expected second wave of COVID-19 infections. Since the first whole-genome sequence of the new coronavirus, SARS-CoV-2, was shared online on 11 January, scientists have sequenced and shared some 32,000 viral genomes from around the world. Such a vast […]

Positive prognosis: the rapid growth of healthtech

Positive prognosis: the rapid growth of healthtech

Digital technologies are revolutionizing the healthcare sector, which is great news for patients, medical practitioners, researchers and investors. Find out why healthtech is a trend with massive global potential.

Digital technologies are revolutionizing the healthcare sector, which is great news for patients, medical practitioners, researchers, and investors. Find out why healthtech is a trend with massive global potential. Are you interested in investing in healthcare? Connect with our experts Healthtech is one of the fastest-growing segments in the healthcare sector. “Healthtech” refers to the […]

Com­mon disease pre­ven­tion and cancer screen­ing would be­ne­fit from ge­n­omic risk as­sess­ment
Taken from magazine: University of Helsinki

Com­mon disease pre­ven­tion and cancer screen­ing would be­ne­fit from ge­n­omic risk as­sess­ment

The benefits of large-scale genomic information in estimating the risk of onset for cardiac diseases, diabetes and common cancers

A new Finnish study demonstrated the benefits of large-scale genomic information in estimating the risk of onset for cardiac diseases, diabetes and common cancers. The findings, based on the FinnGen research dataset encompassing more than 135,000 Finns, show that new tools based on genomic data are helpful in identifying high-risk individuals not identified by the […]

How sick will the coronavirus make you? The answer may be in your genes

How sick will the coronavirus make you? The answer may be in your genes

Researchers are now gearing up to scour the patients’ genomes for DNA variations that explain this mystery. The findings could be used to identify those most at risk of serious illness and those who might be protected, and they might also guide the search for new treatments.

COVID-19, caused by the new pandemic coronavirus, is strangely—and tragically—selective. Only some infected people get sick, and although most of the critically ill are elderly or have complicating problems such as heart disease, some killed by the disease are previously healthy and even relatively young. Researchers are now gearing up to scour the patients’ genomes […]

Coronavirus: sequencing the DNA of patients screened for coronavirus might save lives

Coronavirus: sequencing the DNA of patients screened for coronavirus might save lives

We should look for DNA differences between patients who are severely affected and those with mild symptoms.

Scientists should start sequencing the genomes of coronavirus patients. We should look for DNA differences between patients who are severely affected and those with mild symptoms. This could allow us to predict who else would be vulnerable and advise them to take precautions. We may be able to use this knowledge against the coronavirus epidemic […]

What makes us vulnerable to Covid-19

What makes us vulnerable to Covid-19

Why are some people worse affected by Covid-19 (and other viruses) than others? Estimates of the fatality rate vary from country to country.

In the throes of the Covid-19 outbreak, individuals and governments worldwide are turning to science for answers. The last global outbreak to cause this much panic was the Spanish flu, which is estimated to have killed 50 million and infected 500 million people between 1918 and 1919. The cause of that disease was at the […]

Making new genetic diagnoses with old data:
Taken from magazine: Genetics in Medicine 20, pages1216–1223(2018)

Making new genetic diagnoses with old data:

Iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Abstract Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge. Methods We tested this hypothesis in the United Kingdom–wide Deciphering Developmental Disorders study, where in 2014 we reported a […]

Should We Sequence the Genome of Every Newborn?

Should We Sequence the Genome of Every Newborn?

Yes, but only if we do it in targeted ways that are attentive to the needs of babies, families and health systems

In November 2019, Matt Hancock, the United Kingdom’s health secretary announced a plan to sequence the genome of every baby born in a National Health Service hospital, beginning with a pilot of 20,000 children. Hancock, called his plan a “genomic revolution,” promising that whole-genome sequencing and genomics would play a huge part in ensuring that every […]

Is Cloud Computing the Answer to Genomics’ Big Data Problem?

Is Cloud Computing the Answer to Genomics’ Big Data Problem?

The success of the genomics industry has led to generation of huge amounts of sequence data. If put to good use, this information has the potential to revolutionize medicine, but the expense of the high-powered computers needed to achieve this is making full exploitation of the data difficult. Could cloud computing be the answer?

Over the last decade, genomics has become the backbone of drug discovery. It has allowed scientists to develop more targeted therapies, boosting the chances of successful clinical trials. In 2018 alone, over 40% of FDA-approved drugs had the capacity for being personalized to patients, largely based on genomics data. As the percentage has doubled over the past […]

Greater Diversity Is Needed in Human Genomic Data
Taken from magazine: TheScientists

Greater Diversity Is Needed in Human Genomic Data

Researchers must ensure that the inequality seen in most of today’s genomic studies and databases is corrected.

Since the Human Genome Project was completed, scientists around the world have worked tirelessly to populate the sequence and variant databases that have become the crown jewels of genomics research. These databases are now brimming with genomic information, but unfortunately, they are greatly biased towards individuals of European descent. For example, 70 percent of the […]

DNA-Based Data Is a Hot Commodity, and Pharma Is Buying

DNA-Based Data Is a Hot Commodity, and Pharma Is Buying

How pharma companies are forming partnerships and striking deals to tap into stores of data to identify new R&D targets and fill clinical trials.

As the pharmaceutical industry continues along the path to precision medicine, drug discovery efforts are just one aspect of the business that increasingly will be fueled by data. A flurry of deals, including GlaxoSmithKline’s $300-million, four-year investment in 23andMe, gives us a window into how pharma companies are forming partnerships and striking deals to tap into […]

Collection of genetic data leads to privacy concerns

Collection of genetic data leads to privacy concerns

The market for at-home DNA tests is booming. As the companies behind them amass more genetic data, privacy advocates have raised concerns that consumers lack much-needed protection

A DNA test can reveal surprising facts about us – certain genes make us more inclined to have dry earwax, for example, and others make us more likely to sneeze when we see a bright light. Some genes even result in people being more attractive targets for mosquitoes, so if you’ve ever felt personally singled out by the insect […]

How to Identify Almost Anyone in a Consumer Gene Database

How to Identify Almost Anyone in a Consumer Gene Database

New techniques that dig more deeply into genetic databases may soon make the anonymity of their customers’ DNA impossible to safeguard

Researchers are becoming so adept at mining information from genealogical, medical and police genetic databases that it is becoming difficult to protect anyone’s privacy—even those who have never submitted their DNA for analysis. In one of two separate studies published on October 11, researchers report that by testing the 1.28 million samples contained in a […]

MGeND: an integrated database for Japanese clinical and genomic information

MGeND: an integrated database for Japanese clinical and genomic information

Human Genome Variation volume 6, Article number: 53 (2019)

Abstract To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by […]

Key Observations on GDPR

Key Observations on GDPR

A period of sheer panic as companies realized the mountain they needed to climb towards compliance.

The General Data Protection Regulation (GDPR) came into effect on May 25, 2018, with its objectives being to reshape the relationship between organizations and individuals, reform the approach to how businesses handle personal data and to rehabilitate (sanction) organizations which fail to comply. The run-up to May 25, 2018, maybe neatly summarized as a period […]

Gene therapy coming of age: Opportunities and challenges to getting ahead                                          | Mckinsey & Compamy

Gene therapy coming of age: Opportunities and challenges to getting ahead | Mckinsey & Compamy

Amid breakthroughs in gene editing, the pharma industry must recalibrate its development and reimbursement model for therapies that go beyond the traditional approach to disease treatment.

The completion of the first draft of the human genome in 2001 was supposed to kick off an era of personalized medicine and curative gene therapies.1 Only in the past few years has that promise started to become reality: several RNA- and DNA-based therapies are now on market, and the first curative gene therapy, Luxturna, was approved […]

Genetic testing: Opportunities to unlock value in precision medicine | Mckinsey & Company

Genetic testing: Opportunities to unlock value in precision medicine | Mckinsey & Company

Winning diagnostics companies will integrate advanced analysis of genomic data with other data sets and electronic medical records, as well as effective reimbursement strategies.

With a growing repository of personalized data at the molecular level, molecular-diagnostics companies are uniquely positioned to unlock value. The global market for personalized medicine has grown rapidly since the inception of the Precision Medicine Initiative, announced by Barack Obama during his 2015 State of the Union address. Market research estimated the 2016 global market […]

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