CRISPR technology: A decade of genome editing is only the beginning
JY Wang, JA Doudna - Science, 2023 - science.org
The advent of clustered regularly interspaced short palindromic repeat (CRISPR) genome
editing, coupled with advances in computing and imaging capabilities, has initiated a new …
editing, coupled with advances in computing and imaging capabilities, has initiated a new …
[HTML][HTML] High-content CRISPR screening
CRISPR screens are a powerful source of biological discovery, enabling the unbiased
interrogation of gene function in a wide range of applications and species. In pooled …
interrogation of gene function in a wide range of applications and species. In pooled …
Accurate proteome-wide missense variant effect prediction with AlphaMissense
The vast majority of missense variants observed in the human genome are of unknown
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
clinical significance. We present AlphaMissense, an adaptation of AlphaFold fine-tuned on …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Insomnia is a heritable, highly prevalent sleep disorder for which no sufficient treatment
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
currently exists. Previous genome-wide association studies with up to 1.3 million subjects …
High-yield genome engineering in primary cells using a hybrid ssDNA repair template and small-molecule cocktails
Enhancing CRISPR-mediated site-specific transgene insertion efficiency by homology-
directed repair (HDR) using high concentrations of double-stranded DNA (dsDNA) with …
directed repair (HDR) using high concentrations of double-stranded DNA (dsDNA) with …
Learning the protein language: Evolution, structure, and function
Language models have recently emerged as a powerful machine-learning approach for
distilling information from massive protein sequence databases. From readily available …
distilling information from massive protein sequence databases. From readily available …
A new era in functional genomics screens
L Przybyla, LA Gilbert - Nature Reviews Genetics, 2022 - nature.com
The past 25 years of genomics research first revealed which genes are encoded by the
human genome and then a detailed catalogue of human genome variation associated with …
human genome and then a detailed catalogue of human genome variation associated with …
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Genetic variation can predispose to disease both through (i) monogenic risk variants that
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …
disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that …