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The aim of the Computational Biology team is to understand how individual bases in our genome predispose, alter and interact in normal and disease contexts.
Research
Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for ALL and lymphoma in caucasian childrenThe largest GWAS meta-analysis conducted to date associating SNPs to venous thromboembolism in children and adolescents treated on childhood ALL protocols
Research
Evidence of a reduction over time in the behavioral severity of autistic disorder diagnosesWe examined whether there were changes over time in the qualitative and quantitative phenotype of individuals who received the diagnosis of Autistic Disorder.
News & Events
Smooth sailing for Drina thanks to burden-breaking technologyRecent diabetes technology is helping 12-year-old Drina keep on top of her condition and be independent, while significantly easing the disease burden on her family.
Research
Climate change policies fail to protect child healthNational policies are essential for countries to adapt to the negative health impacts of climate change. Children are disproportionately affected by these impacts and must be at the heart of adaptation policies to address their vulnerabilities. Adaptation commitments worldwide are integrated into national adaptation plans, nationally determined contributions, national communications, and other multisectoral policies. We aimed to evaluate how effectively national climate change policies worldwide plan to protect child health, considering a range of determinants for successful child-health adaptation.
Research
Palliative care for people with substance use disorders: a qualitative study of the experiences of rural primary care providersIn Australia, substance use disorders disproportionately affect people living in rural and remote areas. Patients with substance use disorders who receive palliative care have complex, often unmet, end-of-life needs. There is scarce evidence on the management of patients with substance use disorders in palliative care, and there is no consensus on the model of care to assist general practitioners manage their patients. This is particularly salient for general practitioners in rural areas, who provide most of the palliative care to their patients.
Research
Potential predictive value of CD8A and PGF protein expression in gastric cancer patients treated with neoadjuvant immunotherapyImmunoneoadjuvant therapy has gained significant attention due to its remarkable advancements in cancer treatment. This study aimed to investigate the molecular mechanisms underlying immunoneoadjuvant therapy through a comprehensive multiomics analysis of samples from a registered clinical trial cohort.
Research
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryThe Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.