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Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes

VEP performance across different human disease genes is highly heterogeneousTo investigate the performance of VEPs across different genes, we compiled a large set of human missense variants,...

Wobble Genomics’ new tech demonstrates the power of RNA sequencing in identifying rare RNA transcript variants

Wobble Genomics, a healthcare and biotechnology company at the forefront of long-read RNA sequencing, will present data today demonstrating that its technology can detect rare full-length RNA...

What are your favorite scientific book covers?

I have a book coming out. I have some ideas for the cover, and the marketing folks at UChicago Press will have ideas as well. But I...

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Study reveals ways in which 40Hz sensory stimulation may preserve brain’s ‘white matter’

Early-stage trials in Alzheimer's disease patients and studies in mouse models of the disease have suggested positive impacts on pathology and symptoms from exposure...

Balancing financial wellbeing with the Tongan way of life

Balancing cultural obligations and personal finance helps Tongan New Zealanders with their overall wellbeing, according to a small study from the University of Auckland....

MOCHA’s advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human cohorts

Inclusion and ethical considerationsAll study activities were approved by institutional review boards at the participating institutions where required. Informed consent was obtained from all...

CREMP: Conformer-rotamer ensembles of macrocyclic peptides for machine learning

Driggers, E. M., Hale, S. P., Lee, J. & Terrett, N. K. The exploration of macrocycles for drug discovery–an underexploited structural class. Nat. Rev....

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