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Extra fingers and double hearts: Scientists decode how tiny mutations can derail development

Our genomes provide the instructions for proper growth and development. Millions of genomic switches, known as enhancers, control the location and timing of gene expression, which in turn ensures the correct proteins are made in the right cells at the right time throughout our lives. ....

United States , San Diego , University Of California San Diego , Gemma Farley , Agnieszka Dantonio Chronowska , Paige Steffen , Simran Jandu , Jessica Grudzien , Adam Klie , Sophia Le , Reid Larsen Kelly Frazer , Genevieve Ryan , Michelle Ragsac , Granton Jindal , Research Excellence Scholars Program , National Science Foundation , American Heart Association , Departments Of Medicine School , California Institute For Regenerative Medicine , Molecular Biology School Of Biological Sciences , University Of California , Alexis Bantle Biological Sciences , National Institutes Of Health , Fabian Lim Biological Sciences , Developmental Cell , Faculty Member ,

Bioinformatics software paves the way for phage therapy

The Phables computational tool can identify and characterise 49% more complete phage genomes compared to existing viral identification tools. ....

Flinders University , South Australia , Vijini Mallawaarachchi , Robert Edwards , Australian Society For Microbiology Annual National Meeting , Computational Biology Society Conference , Flinders University College Of Science , Flinders University College , Flinders Accelerator , Microbiome Exploration , Professor Robert Edwards , Human Microbiology , Australian Society , Microbiology Annual National Meeting , Australian Bioinformatics ,

Novel software measures the significance of specific genomic biomarkers to help predict diseases

IntelliGenes, a first of its kind software created at Rutgers Health, combines artificial intelligence (AI) and machine-learning approaches to measure the significance of specific genomic biomarkers to help predict diseases in individuals, according to its developers. ....

Dinesh Mendhe , Zeeshan Ahmed , Habiba Abdelhalim , Saman Zeeshan , William Degroat , Atharva Bhusari , Rutgers Office Of Advanced Research Computing , Rutgers Health , Health Care , Rutgers University , Robert Wood Johnson Medical School , Rutgers Institute For Health , Rutgers Cancer Institute Of New Jersey , Rutgers Institute , Health Care Policy , Aging Research , Scientific Reports , Robert Wood Johnson Medical , Rutgers Office , Advanced Research , Rutgers Cancer Institute , Artificial Intelligence , Health Care , Machine Learning ,

Combining health data with whole genome sequence data in cancer patients can help doctors provide more tailored care

Researchers evaluated the impact of integrating whole-genome sequencing data with clinical outcomes across 13,880 tumors from 33 cancer types, assessing precision care potentials within the UK NHS through the 100,000 Genomes Cancer Programme. ....

United Kingdom , Sequencin Hiseq , Cancer Programme , National Genomic Test Directory , Cambridge South Research Ethics Committee , Research Environment , National Cancer Registration , Analysis Service , Genomic Medicine Service , Genomes Cancer Programme , Public Health England , Office For National Statistics , National Genomic Research Library , International Organization For Standardization , United Kingdom National Healthcare System , Nature Medicine , National Healthcare System , Image Credit , United Kingdom Government , International Organization , Medicine Service , National Genomic Test , Sample Handling Guidance , Illumina Truseq Polymerase Chain Reaction , High Throughput Sequencin , Illumina North Star ,

Pioneering Genomic Progress: An Interview with Rami Mehio, Illumina's Software and Informatics Expert

In this interview, Rami Mehio, head of software and informatics at Illumina, shares his experiences and contributions to major genomic projects like the UK Biobank's whole genome sequencing. He discusses the challenges and innovations in genomic data analysis, highlighting Illumina's role in advancing genetic research and precision medicine. ....

United Kingdom , Mongkolchon Akesin Shutterstock , Danielle Ellis , Amazon Web Service , Rami Mehiohead Of Software , Rami Mehiohead , Rami Mehio , United Kingdom Biobank , Edico Genome , Illumina Connected Analytics , Image Credit , Precision Medicine , K Biobank , Whole Genome Sequencing ,