An international study led by University of Manchester scientists has discovered the identity of genes that predispose people to chronic kidney disease. The discovery is a major advance in understanding the significantly under-diagnosed disorder which, if left undetected, can lead to failing kidneys that need dialysis or kidney transplantation. The discovery of 35 kidney genes is an important step forward to the future development of new diagnostic tests and treatments for the disease that affects around one in ten adults. The team, based in Poland, Australia and the UK have published the Kidney Research UK-funded study in Nature Communications. Lead researcher Professor Maciej Tomaszewski from The University of Manchester said: “Chronic kidney disease is known for its strong genetic component. Our limited knowledge of its exact genetic mechanisms partly explains why progress in the development of new diagnostic tests and treatments of chronic kidney disease has been so slow. The findings were made possible by using a state-of-the art technology known as “next-generation RNA sequencing” applied to one of the largest ever collections of human kidneys. We hope that some of the kidney genes we discovered may become attractive targets for the development of future diagnostics and treatment for patients with chronic kidney disease.” Co-author Professor Adrian Woolf from Manchester Children’s Hospital and The University of Manchester said: “One of the genes – mucin-1- is especially interesting. It makes a sticky protein called mucin that coats urinary tubes inside the kidney. Mutations of this gene have already been found in rare families with inherited kidney failure.”
University of Manchester
Mathilde came into the world with chubby cheeks and a full head of auburn hair. But she was a very sick baby, and was immediately transferred on January 19, 2013 to the Neonatal Intensive Care Unit at the Montreal Children’s Hospital of the McGill University Health Centre (MCH-MUHC). By the time she arrived, she was sicker than initially expected; Mathilde’s small head was of particular concern to doctors. She underwent neurological tests, and sadly, they came back abnormal: her brain hadn’t developed properly and her brain white matter (or myelin) was found to be atypical. Doctors confirmed she was suffering from an unidentified kind of genetic leukoencephalopathy, a family of diseases affecting both the nerve cells and the white matter. Mathilde passed away when she was two-and-a-half months old, surrounded by the people who loved her most. Thanks to an international effort led by physician-scientists at Rady Children’s Institute for Genomic Medicine (RCIGM)-San Diego in California, Dr. Geneviève Bernard’s team at the Research Institute of the McGill University Health Centre (RI-MUHC) was able to confirm the diagnosis for Mathilde: she died from VARS-related disorder, an extremely rare neurodevelopmental condition. Their findings are paving the way for the first step in developing potential therapies for this rare neurodegenerative condition. Investigators performed advanced genetic tests on blood samples from seven children with neuro-developmental disabilities who were evaluated by doctors in San Diego, Montreal and Cairo. This led to the discovery of mutations in the VARS gene, which had not previously been linked to human disease. “These children showed epileptic seizures and abnormalities evident on brain MRI scans,” said lead study’s author Joseph Gleeson, MD, director of neurodevelopmental genetics at RCIGM and professor of neuroscience and pediatrics at UC San Diego School of Medicine. “Although no treatment currently exists for this condition, the results are important as the first step in guiding research directed at targeted therapies.” The genetic mutations identified in the study led to a defect in the enzyme responsible for generating proteins containing the amino acid valine, which is necessary for cellular health. Genetic variations that damage these types of enzymes are associated with a variety of human diseases including microcephaly and neuropathy. In this study, the team found that enzymatic activity was significantly reduced in cells from their young patients. The findings suggest that children with this disorder may benefit from treatments to support the synthesis of new valine-containing proteins in the brain.
McGill University Health Centrehttps://tinyurl.com/yxjg3dp5
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The use of genetic tests aimed at detecting the presence of mutations in the BRCA1 and BRCA2 genes in women with breast cancer is rapidly declining in favour of tests that can detect multiple cancer-associated mutations, according to researchers at the Stanford University School of Medicine and five other U.S. medical centres. Some researchers had wondered whether multigene testing, which may identify genetic mutations of uncertain clinical significance, would lead more women to consider prophylactic mastectomies — a surgery in which both breasts are removed to prevent future cancers — out of an abundance of caution. However, the current study did not show an increase in mastectomies associated with testing more genes. The shift reflects a growing acknowledgement by clinicians that multigene panel tests can yield more clinically useful information for patients and their unaffected relatives, the researchers said. Overall, multigene panels were about twice as likely as the tests for BRCA1 and BRCA2 to identify disease-associated genetic variants, the study found. However, multigene testing was more likely than the BRCA-only testing to be delayed until after surgery to remove the tumour. This time lag may limit a patient’s treatment options, the researchers said. “In general, multigene panel tests yield more clinically useful results and are rapidly becoming the norm,” said Allison Kurian, MD, associate professor of medicine and of health research and policy at Stanford. “Newly diagnosed women should ask their doctors whether they may be appropriate candidates for genetic testing. They should also advocate for the opportunity to discuss genetic testing and its implications with an experienced clinician, such as a genetic counselor, in a timely manner.” In general, multigene panel tests yield more clinically useful results and are rapidly becoming the norm. Multigene panel tests are more likely than BRCA-only tests to yield information about both a patient and her family members, who may be unwitting carriers of disease-associated mutations. “This is very important because it offers the opportunity for genetically targeted, primary cancer prevention in unaffected relatives,” said Kurian, who is a member of the Stanford Cancer Institute. “Some prior research has shown that this ‘cascade testing’ of unaffected relatives is cost-effective, and there are currently several initiatives underway to improve upon the delivery and success rates of cascade testing.”
Stanford School of Medicine med.stanford.edu/news/all-news/2018/05/multigene-testing-replacing-brca-tests-for-breast-cancer-risk.html
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Researchers have discovered a way to better predict progression of Alzheimer’s disease. By imaging microglial activation levels with positron emission tomography (PET), researchers were able to better predict progression of the disease than with beta-amyloid PET imaging, according to a study published.
According to the Alzheimer’s Association, an estimated 5.3 million Americans are currently living with Alzheimer’s disease. By 2025, that number is expected to increase to more than seven million. The hallmark brain changes for those with Alzheimer’s disease include the accumulation of beta-amyloid plaques. When microglial cells from the central nervous system recognize the presence of beta-amyloid plaques, they produce an inflammatory reaction in the brain.
“The 18-kD translocator protein (TSPO) is highly expressed in activated microglia, which makes it a valuable biomarker to assess inflammation in the brain,” said Matthias Brendel, MD, MHBA, at Ludwig-Maximilians-University of Munich in Germany. “In our study, we utilized TSPO-PET imaging to determine whether microglial activation had any influence on cognitive outcomes in an amyloid mouse model.”
In the study, researchers compiled a series of PET images for 10 transgenic mice with beta-amyloid proteins and seven wild-type mice. TSPO PET imaging of activated microglia was conducted at eight, 9.5, 11.5 and 13 months, and beta-amyloid PET imaging was performed at eight and 13 months. Upon completion of the imaging, researchers then subjected the mice to a water maze in which the mice were to distinguish between a floating platform that would hold their weight and one that would sink. The tasks were performed several times a day during a 1.5-week period. Memory performance in the water maze was assessed by measuring the average travel time from the start point to a platform each day of training and by calculating the travelled distance at the last day of training. After completing the water maze task, immunohistochemistry analyses were performed for microglia, amyloid and synaptic density.
Transgenic mice with the highest TSPO PET signal in the forebrain or other areas associated with spatial learning tended to have better cognitive performance in the water maze, while beta-amyloid signals in the same areas of the brain showed no correlation to cognitive outcomes in the maze. Researchers found that an earlier microglial response to amyloid pathology in transgenic mice also protected synaptic density at follow-up. Specifically, transgenic mice with higher TSPO expression at eight months had much better cognitive outcomes in the water maze and higher synaptic density as confirmed by immunochemistry analyses.
“This study provides the first evidence that the level of microglial activation could be a far better predictor of current and future cognitive performance than beta-amyloid levels,” noted Brendel. “Keeping the limitations of mouse models in mind, it could be crucial to modify an individual’s microglial activation state to ameliorate future cognitive decline. We believe that a balanced microglia activation is crucial for prevention of cognitive impairment.”
Society of Nuclear Medicine and Molecular Imaging
https://tinyurl.com/y6jyl4mw
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ISCT, the International Society for Cell and Gene Therapy, the global professional society of clinicians, researchers, regulatory specialists, technologists and industry partners in the cell and gene therapy sector, announced on November 20, 2018 the first publication of its new annual report detailing global cell and gene therapies (CGT) with market authorization. The CGT market authorization report is intended to provide a centralized resource and increased clarity for all of those involved in the CGT industry. This involves the scientific community, healthcare stakeholders and patient associations. The report will be a regularly updated document that will be republished yearly, and accessible through the ISCT website. The report has been designed to react to the increase in momentum around a widening number of CGT authorizations, as well as a parallel increase of unproven approaches where cells are delivered as treatments without rigorous scientific and regulatory assessment and authorization. The report has been prepared by select members of the ISCT Presidential Task Force (PTF) on the Use of Unproven and/or Unethical Cell & Gene Therapies (UCGT) with lead authors Natividad Cuende (Executive Director, Andalusian Initiative for Advanced Therapies, Seville, Spain) and Laertis Ikonomou (Assistant Professor of Medicine, Boston University School of Medicine, Boston, MA). The ISCT Presidential Task Force was formed in 2014 to support ISCT’s ongoing commitment to address the rise of commercially available unproven or insufficiently proven CGT treatments. These approaches are targeted at hopeful individuals seeking cures or health improvement for a variety of conditions. The PTF-UCGT characterizes unproven cellular interventions and promotes safe and effective practices worldwide. The reliable, up-to-date resource will help patients to make informed decisions before receiving a CGT treatment so that they can avoid being exposed to unproven and unlicensed cell interventions not approved by a regulatory or medicine agency. The report also provides an annual breakdown of CGTs that have received, as well in some cases, have withdrawn, market approval. This includes analysis on types of product and therapy as well as disease targeted. 44 unique products were identified. 84% were cell and tissue therapies, and 55% were autologous. More than one third target oncological or hematologic conditions. In the US, there are over 16 cell, tissue and gene products with marketing authorization, 14 in Korea, eight in Europe, four in India and Japan, two in Canada, and one each in China and Australia. This contrasts with Russia, Middle East, Africa, Central and South America, which have no CGT market authorizations or data available. “The number of market approved cell and gene therapy treatments continues to grow, with a high number of other therapies seeking approval. It is critical for all those involved in the sector, and most importantly those patients that may benefit from newly approved treatments, to have an annually updated resource detailing all approved cell and gene therapies,” said Massimo Dominici, Chair of the ISCT Presidential Task Force on Unproven and Unethical Cell & Gene Therapies. “This resource will give patients visibility on what cell and gene therapies have gone through proper approval processes, and help them alongside physicians to make more informed decisions about their treatment.” In tandem with the efforts of professional societies like ISCT, it is imperative that the regulatory environment and guidance keep pace with the rapid advancements in cell and gene therapy. As such, this report also supports ISCT the FDA’s continued publication of numerous draft CGT guidance documents in 2018.
QIAGEN announced on August 1st that its careHPV™ Test, one of the only molecular diagnostics for high-risk human papillomavirus (HPV) designed to screen women in low-resource settings, has been added to the World Health Organization (WHO) list of prequalified in vitro diagnostics (IVDs). HPV is the primary cause of cervical cancer, so screening women for the presence of the virus is a critical aspect for prevention and early treatment of the deadly cancer. The careHPV Test was launched globally in 2010 and through numerous pilot studies has demonstrated to be a more sensitive alternative to cytology and visual inspection based methods for the detection of pre-cancerous cell abnormalities. The WHO’s evidence-based listing is expected to expand the availability of this critical diagnostic tool in countries that rely on the global organization’s list in making purchasing decisions. The WHO Prequalification status will significantly broaden access to HPV DNA testing to areas of the world with a high burden of cervical cancer.
“The WHO prequalified IVD listing is a ‘stamp of approval’ for our innovative careHPV Test, and this will encourage authorities to adopt efficient, highly accurate HPV screening for prevention of cervical cancer in settings with limited healthcare infrastructure,” said Thierry Bernard, Senior Vice President, Molecular Diagnostics Business Area, for QIAGEN. “China routinely uses careHPV in rural or low-resource areas, and QIAGEN partners with non-governmental organizations and health ministries in developing countries. We expect the WHO listing to drive further dissemination of this important tool for women’s health.”
QIAGEN’s fast, portable and easy-to-use careHPV Test combines the power of advanced molecular technologies with innovative design features for areas lacking consistent electricity, water or a controlled laboratory environment. For example, the system has color-coded, easy-to-understand menus and self-contained reagents. The test tolerates temperature variations that occur in rural clinics lacking refrigeration due to limited electricity or water, and can provide results much faster than traditional laboratory based methodologies. The careHPV Test was developed with support from PATH, an international nonprofit organization, and is manufactured by QIAGEN in Shenzhen, China.
“High-quality molecular HPV tests that are easy to run are critical for expansion of cervical cancer prevention strategies in low-resource settings. WHO prequalification of careHPV is excellent news that will help countries to choose the best and most suitable technology for their programs. To achieve higher coverage of at-risk women and make an impact in cervical cancer prevention, we need to move to affordable and cost-effective strategies with HPV testing leveraging self-sampling potentially,” said Dr. Silvia de Sanjosé, Director of Scale-Up project at PATH, a global organization that works to accelerate health equity by bringing together public institutions, businesses, social enterprises, and investors to solve the world’s most pressing health challenges.
The careHPV Test for low-resource settings is highly complementary with QIAGEN’s digene HC2 HPV Test, the world’s most validated and sensitive diagnostic test for detection of high-risk HPV. The digene HC2 HPV Test is recognized as the “gold standard” in HPV screening and is widely used in developed countries and in large cities in emerging markets.
Cervical cancer is the fourth most common cancer among women worldwide, with an estimated 528,000 new cases and 266,000 deaths in 2012, the most recent year for which WHO publishes statistics. An estimated 80% of new cases and deaths occur in developing countries, where awareness of the disease and access to preventive tests and medical treatment is low. In many low-resource areas, cervical cancer has eclipsed breast cancer as the primary cancer killer of women.
http://www.qiagen.com
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Researchers at Karolinska Institutet in Sweden have identified blood-based biomarkers that may determine which patients will benefit from continued hormonal therapy for advanced prostate cancer. The researchers envision that this discovery may eventually result in a test that contributes to a more personalized treatment of the disease.
Prostate cancer is the most common male cancer in Sweden. Approximately one in four will be diagnosed with or progress to metastatic prostate cancer. Initial systemic hormonal treatment works well for most patients with metastatic prostate cancer. But over time, the tumour develops resistance, resulting in metastatic castration-resistant prostate cancer (mCRPC).
A continued hormonal treatment for the mCRPC condition with drugs such as Zytiga (abiraterone acetate) and Xtandi (enzalutamide) provides additional clinical benefit, however not all patients respond to these treatments. Thus, in order to avoid unnecessary side effects and pharmaceutical expenses, it is necessary to identify those men who will benefit from the medicines before treatment is started.
This problem is now closer to being resolved through new results by researchers at Karolinska Institutet.
“Our method can identify patients who are likely to have a poor outcome to these treatments and therefore should be offered other alternatives, if available,” says lead author Bram De Laere, postdoc at the Department of Medical Epidemiology and Biostatistics.
The researchers’ methodology is based on an analysis of prognostic biomarkers, with known associations with therapy resistance, in the blood of patients with mCRPC.
In prostate cancer, treatment resistance can be caused by changes in genes such as the androgen receptor (AR) and a gene called TP53. Most often, these resistance markers have been studied on a one by one basis, which has led to conflicting results between independent scientific publications.
Instead, the researchers at Karolinska Institutet have developed a method for investigating all known resistance markers in AR and TP53 simultaneously. This was first done in a larger patient cohort, in a study published last year, where the researchers were able to show that individual markers in AR were not independently associated with outcome, when correcting for clinical characteristics, circulating tumour burden estimates and mutations in TP53.
They now show that in the subset of the patients without TP53 mutations, the number of AR resistance markers can indeed provide independent prognostic information.
“We see that the prognosis is poorest for men with three or more resistance markers in AR,” says Johan Lindberg, researcher at the Department of Medical Epidemiology and Biostatistics at Karolinska Institutet, and senior author of the study. “This suggests that patients with a normal TP53 gene, without or with a small number of AR resistance markers would benefit more from continued hormonal treatment with medicines such as Zytiga and Xtandi.”
Consequently, the research group is introducing a new concept, the AR-burden – a measure of the number of treatment-relevant changes in the AR gene.
Karolinska Institutet
https://tinyurl.com/y2uxy66o
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Thermo Fisher Scientific and NX Prenatal Inc., a recognized leader in the detection, monitoring and management of pregnancy-related complications using novel exosome-based methods, have entered into a collaboration to develop clinical mass spectrometry-based proteomics assays to monitor fetal health in utero and assess the risk of adverse outcomes, including preterm birth and preeclampsia. This new collaboration recognizes the challenges faced by medical professionals who have few tools available for noninvasive risk stratification for adverse pregnancy outcomes. By combining NX Prenatal’s NeXosome platform with Thermo Fisher’s leading liquid chromatography-mass spectrometry (LC-MS) instrumentation, the workflows can address the reliability, accuracy and precision of the analytical solutions currently available to clinical scientists. "Our collaboration with NX Prenatal is aiming to enable us to better evaluate maternal and fetal biomarkers during pregnancy that correlate with adverse outcomes, such as preterm birth," said Brad Hart, senior director, clinical research, chromatography and mass spectrometry, Thermo Fisher Scientific. "The co-development of a commercially available clinical mass spectrometry-based proteomics assay has the potential to provide a diagnostic solution to both clinical scientists and medical professionals offering more confidence in the evaluation of novel biomarkers that can support a safe delivery and healthy future for mother and baby." "At NX Prenatal, we are developing novel assays and noninvasive early warning systems to detect subtle molecular changes in the maternal-fetal environment, all with the goal of improving the rate of healthy pregnancy outcomes," said Brian D. Brohman, CEO of NX Prenatal. "Our collaboration with Thermo Fisher Scientific brings together our novel NeXosome platform with their leading analytical technology with the goal of optimizing clinical mass spectrometry-based workflows, in an effort to provide the precision necessary for personalized diagnostic solutions to improve health outcomes for both mother and child." The unique NeXosome technology is used to enrich maternal blood samples for microparticles, such as exosomes, which play key roles in maintaining certain balances between the mother and fetus during pregnancy. Aberrations in these balances have been shown to correlate with the likelihood of adverse pregnancy outcomes. Merging the NeXosome platform with Thermo Fisher LC-MS technology has the potential to generate fast, efficient and accurate data for the analysis of exosome-derived proteomic biomarkers, which may lead to increased information about maternal and fetal health during pregnancy. Ultimately, the analysis has the potential to support obstetrical care decisions in conjunction with traditional clinical assessments. www.thermofisher.com
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The team of Professor Dirk Haller at the Technical University of Munich (TUM) made an unexpected discovery while investigating the triggering factors of colon cancer: Cell stress in combination with an altered microbiota in the colon drives tumour growth. Previously, it was assumed that this combination only contributes to inflammatory intestinal diseases. "With our study we originally wanted to study the role of bacteria in the intestines in the development of intestinal inflammation," explains Professor Dirk Haller from the Department of Nutrition and Immunology at the Weihenstephan Science Centre of the TUM. "However, the surprising result for us was the discovery that bacteria together with stress in cells caused tumours (exclusively in the colon) and without the involvement of inflammation". The investigations were initially carried out using the mouse model. In germ-free (i.e. sterile) animals, in which the activated transcription factor ATF6 regulated stress in the intestinal mucosa (intestinal epithelium), no change could be observed. But as soon as the microbiota, i.e. all the microorganisms in the intestine, were transplanted back into germ-free animals, tumours developed in the colon of the mice. Using Koch’s postulates, Haller and his team were able to show that microorganisms are involved in the development of cancer in the colon. The transcription factor ATF6 regulates stress in cells, and the intensity and duration of activation is increased with diseases. "However, it is not cell stress alone that leads to tumour growth, but the combination of stress and microbiota that favours cancer growth," says Haller, head of ZIEL – the Institute for Food & Health at TUM. Subsequently, in cooperation with the clinic on the right side of the Isar (Prof. Janssen), the data of 541 patients with colon cancer were examined. In those cases where the level of transcription factor ATF6, which triggers cell stress, was significantly increased, the recurrence rate after surgery increased: About ten percent of patients were at risk of getting colon cancer a second time. "In certain patients, the protein ATF6 could serve as a diagnostic marker for an increased risk of colon cancer and could indicate the start of therapy at an early stage," said Prof. Haller – "a microbial therapy is conceivable, when we know more about the composition of the bacterial flora. What now became clear, however: Chronic inflammation has no effect on cancer development in the colon."
Technical University of Munich www.tum.de/en/about-tum/news/press-releases/detail/article/34947/
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Researchers at the Johns Hopkins Kimmel Cancer Center have developed a simple new blood test that can detect the presence of seven different types of cancer by spotting unique patterns in the fragmentation of DNA shed from cancer cells and circulating in the bloodstream. In a proof-of-concept study, the test, called DELFI (DNA evaluation of fragments for early interception), accurately detected the presence of cancer DNA in 57% to more than 99% of blood samples from 208 patients with various stages of breast, colorectal, lung, ovarian, pancreatic, gastric or bile duct cancers in the U.S., Denmark and the Netherlands. DELFI also performed well in tests of blood samples from 215 healthy individuals, falsely identifying cancer in just four cases. The test uses machine learning, a type of artificial intelligence, to identify abnormal patterns of DNA fragments in the blood of patients with cancer. By studying these patterns, the investigators said they could identify the cancers’ tissue of origin in up to 75% of cases. Blood tests, or so-called “liquid biopsies” for cancer detection typically look for mutations, which are changes in the DNA sequence within a cancer cell, or for methylation, a chemical reaction in which a methyl group is added to DNA, says senior study author Victor E. Velculescu, M.D., Ph.D., professor of oncology and co-director of the Cancer Biology Program at the Johns Hopkins Kimmel Cancer Center. But not all cancer patients have changes that are detectable using these methods, he says, and there is a great need for improved methods for early detection of cancer. DELFI, he says, takes a different approach, studying the way DNA is packaged inside the nucleus of a cell by looking in the blood at the size and amount of DNA from different regions across the genome for clues to that packaging. Alessandro Leal, M.D., a lead author of the study and a Ph.D. candidate at the Johns Hopkins University School of Medicine, explains that the nuclei of healthy cells package DNA like a well-organized suitcase in which different regions of the genome are carefully placed in various compartments. By contrast, the nuclei of cancer cells are more like disorganized suitcases, with items from across the genome thrown in haphazardly. “For various reasons, a cancer genome is disorganized in the way it’s packaged, which means that when cancer cells die they release their DNA in a chaotic manner into the bloodstream,” says Jillian Phallen, Ph.D., a lead author on the study and a Johns Hopkins Kimmel Cancer Center postdoctoral fellow. “By examining this cell-free DNA (cfDNA), DELFI helps identify the presence of cancer by detecting abnormalities in the size and amount of DNA in different regions of the genome based on how it is packaged.” The researchers caution that the test’s potential must be further validated in additional studies, but if that happens it could be used to screen for cancer by taking a tube of blood from an individual, extracting the cfDNA, studying its genetic sequences and determining the fragmentation profile of the cfDNA. The genome-wide fragmentation pattern from an individual can then be compared with reference populations to determine if the pattern is likely healthy or derived from cancer. Robert B. Scharpf, Ph.D., a senior author on the study and an associate professor of oncology, says that because the genome-wide fragmentation patterns may reveal differences associated with specific tissues, these patterns, when found to be derived from cancer, can also indicate the source of the cancer, such as from the breast, colon or lung. DELFI simultaneously analyses millions of sequences from hundreds to thousands of regions in the genome, identifying tumour-specific abnormalities from minute cfDNA amounts, says Scharpf. Using DELFI, investigators found that genome-wide cfDNA fragmentation profiles are different between cancer patients and healthy individuals. Stephen Cristiano, a lead author on the study and a Ph.D. candidate in the Johns Hopkins Bloomberg School of Public Health, says that in cancer patients, fragmentation patterns in cfDNA appear to result from mixtures of DNA released from both blood and tumour cells, and show multiple distinct genomic differences with increases and decreases in fragment sizes at different regions.
John Hopkins Medicinehttps://tinyurl.com/yyph9y6e
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