#genomic-medicine

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#noncoding-dna #gene-regulation #deep-learning #sma1 #newborn-screening #patient-advocacy #health-policy
Science
fromwww.scientificamerican.com
1 day ago

Google DeepMind unleashes new AI to investigate DNA's dark matter'

AlphaGenome predicts functional effects of mutations in long noncoding DNA sequences up to one million base pairs, helping interpret genomic variants for disease research.
Public health
fromwww.theguardian.com
2 weeks ago

Calls for SMA screening ignored before Jesy Nelson campaign, say families

Newborn screening for spinal muscular atrophy type 1 is urgently needed as families face diagnosis delays and feel advocacy has been ignored despite government attention.
Cancer
fromNature
4 months ago

Author Correction: PPP2R1A mutations portend improved survival after cancer immunotherapy - Nature

A multidisciplinary cancer research team across MD Anderson and collaborating institutions combined clinical, translational, and computational expertise with defined equal contributions and joint supervision.
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