[HTML][HTML] Analyzing the functional effects of DNA variants with gene editing
S Cooper, S Obolenski, AJ Waters, AR Bassett… - Cell Reports …, 2024 - cell.com
Continual advancements in genomics have led to an ever-widening disparity between the
rate of discovery of genetic variants and our current understanding of their functions and …
rate of discovery of genetic variants and our current understanding of their functions and …
[HTML][HTML] A comprehensive analysis of SARS-CoV-2 missense mutations indicates that all possible amino acid replacements in the viral proteins occurred within the …
The surveillance of COVID-19 pandemic has led to the determination of millions of genome
sequences of the SARS-CoV-2 virus, with the accumulation of a wealth of information never …
sequences of the SARS-CoV-2 virus, with the accumulation of a wealth of information never …
[HTML][HTML] Deep mutational scanning in disease-related genes with saturation Mutagenesis-reinforced functional assays (SMuRF)
Abstract Interpretation of disease-causing genetic variants remains a challenge in human
genetics. Current costs and complexity of deep mutational scanning methods hamper crowd …
genetics. Current costs and complexity of deep mutational scanning methods hamper crowd …
Unsupervised learning reveals landscape of local structural motifs across protein classes
Proteins are known to share similarities in local regions of 3D structure even across
disparate global folds. Such correspondences can help to shed light on functional …
disparate global folds. Such correspondences can help to shed light on functional …
Assessment of variant effect predictors unveils variants difficulty as a critical performance indicator
Amino acid substitutions in protein sequences are generally harmless, but a certain number
of these changes can lead to disease. Accurate prediction of the impact of genetic variants is …
of these changes can lead to disease. Accurate prediction of the impact of genetic variants is …
Deep Learning on Local Sites for Protein Structure and Function Analysis
AWF Derry - 2024 - search.proquest.com
Understanding how the three-dimensional structure of a protein leads to its function is
important for determining disease mechanisms, developing targeted therapeutics, and …
important for determining disease mechanisms, developing targeted therapeutics, and …