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New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide. ....

Teresa Neuhann , Angela Abicht , Department Of Neurology , Genetics Center , Lead Investigator , Medical Genetics Center , Human Phenotype Ontology , Muscular Atrophy , Spinal Muscular Atrophy , Exome Sequencing ,

New AI tool could lead to precision medicine by predicting drug response

An ideal medicine for one person may prove ineffective or harmful for someone else, and predicting who could benefit from a given drug has been difficult. ....

United States , Danielle Ellis , Ikuo Masuho , Brunoe Correia , Kirill Martemyanov , Sanford Research In Sioux Falls , Swiss Institute Of Bioinformatics , Herbert Wertheim , Biomedical Innovation , Cell Reports , Sanford Research , Sioux Falls , Swiss Institute , Artificial Intelligence ,

Meet Opentrons at ASHG 2023

Opentrons is a proud exhibitor at ASHG 2023, and we’re excited to be bringing our automation solutions to the conference. ....

Brian Dugan , Megan Craig , Araceli Cuellar , Kinnari Watson , Opentrons Labworks Inc , Waltere Washington Convention Center , Sciences Inc , From Opentronsoct , Waltere Washington Convention , Secondary Analysis , Opentrons Labworks ,

New software tool provides a way for safer design of genome editing

A team of researchers has developed a software tool called DANGER (Deleterious and ANticipatable Guides Evaluated by RNA-sequencing) analysis that provides a way for the safer design of genome editing in all organisms with a transcriptome. ....

Hidemasa Bono , Megan Craig , Kazuki Nakamae , Hiroshima University , Japan Society For The Promotion Of Science , Technology Agency , Genome Editing Innovation Center , Ptbio Inc , Ptbio Collaborative Research Laboratory , Guides Evaluated , Bioinformatics Advances , Bio Digital Transformation , Japan Science , Japan Society , Genome Editing ,

Allen Institute awarded 3 grants to map brains in 'incredible detail'

The brain is one of the most mysterious parts of the human body, generating emotions, thoughts, and cognition. But there's still so much we don't know. ....

Hongkui Zeng , Xiaoyin Chen , Allen Institute Of Brain Science , Allen Institute , Allen Institute For Brain Science , National Institutes Of Health , National Institutes , Brain Science , Brain Connect , Rosetta Stone , Health Medical Pharma , Rosetta Stone Inc , Open Science , Human Brain , Brain Mapping ,