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Discovery of over 100 genomic loci linked to hypertension
The study’s findings explain the genetic differences in people’s blood pressure, which could lead to personalised medicine approaches.
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Genomics
Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.
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Melanoma tumours produce altBRAFs by genomic deletions
The discovery that genomic deletions cause altBRAFs can help develop new therapies to overcome drug resistance in BRAF-mutant melanoma.
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Discovery of genetic variants that influence Alzheimer’s disease
Whole genome sequencing identified 17 significant variants associated with AD risk in five genomic regions.
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RAD51 prevents DNA re-replication
Researchers find that the RAD51 protein prevents genomic duplications that could arise from reactivated origins.
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Using omic data to develop and validate biomarkers of ageing
Researchers highlight the need for considering biomarkers alongside other health outcomes, as well as the need for omic data standardisation.
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Multi-omic approach classifies biomarkers for paediatric sepsis
Researchers have discovered potential biomarkers to identify paediatric sepsis progression stage, enabling more targeted treatment.
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Studying the effects of 3D genome organisation on gene silencing
Researchers explored the effects of loops and 3D genome organisation on gene silencing, and found that ‘cohesinopathies’ may be linked it.
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RBM5: potential drug target for acute myeloid leukaemia
RBM5 removal from cells meant that HOXA9 mRNA levels were greatly reduced, which could lead to therapies targeting HOXA9-driven leukaemia.
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How AI is accelerating the future of precision medicine
Dr Ketan Patel, Clarivate, shares his insights about the use of Real-World Data and genomic biomarker data and discusses how researchers can use these to better detect and diagnose diseases.
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Unexpected patterns in DNA mutations identified
Disruptions in TP53 and RB1 are key influencers that cause changes in the risk of mutations across chromosomes.
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Discovery of a previously unknown class of HK-CREs
Using bioinformatics analyses, HK-CREs impact on cellular processes was studied, including their potential as housekeeping tumour suppressors.
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Investigating the genetic changes of the DDX3X gene
Using saturation genome editing, researchers have created a map of disease-causing mutations for neurodevelopmental disorders and cancer.
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Mutated DECTIN-1 and its implications for autoimmune disease
A discovery about the mutated protein DECTIN-1, that limits the production of T regulatory cells, could lead to more effective drugs.
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The IKAROS protein is crucial for B cell development
By mapping the genome, scientists have discovered how IKAROS enables differentiation of hematopoietic stem cells into B cells.
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Understanding the genetic origins of disease variation
Researchers, using high-resolution mapping and mathematical modelling, have found mechanisms controlling mutation-driven diseases.