Monogenic diabetes: a gateway to precision medicine in diabetes
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …
Am I ready for CRISPR? A user's guide to genetic screens
JG Doench - Nature Reviews Genetics, 2018 - nature.com
Exciting new technologies are often self-limiting in their rollout, as access to state-of-the-art
instrumentation or the need for years of hands-on experience, for better or worse, ensures …
instrumentation or the need for years of hands-on experience, for better or worse, ensures …
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 …
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 …
Proteingym: Large-scale benchmarks for protein fitness prediction and design
Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …
understanding genetic disease to designing novel proteins to address our most pressing …
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
SE Brnich, AN Abou Tayoun, FJ Couch, GR Cutting… - Genome medicine, 2020 - Springer
Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …
Mutational processes shape the landscape of TP53 mutations in human cancer
AO Giacomelli, X Yang, RE Lintner, JM McFarland… - Nature …, 2018 - nature.com
Unlike most tumor suppressor genes, the most common genetic alterations in tumor protein
p53 (TP53) are missense mutations,. Mutant p53 protein is often abundantly expressed in …
p53 (TP53) are missense mutations,. Mutant p53 protein is often abundantly expressed in …
Saturation variant interpretation using CRISPR prime editing
High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …
has so far been possible only with methods that rely on homology-directed repair, which are …
A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies
TP53, which encodes the tumor suppressor p53, is the most frequently mutated gene in
human cancer. The selective pressures shaping its mutational spectrum, dominated by …
human cancer. The selective pressures shaping its mutational spectrum, dominated by …
Multiplex assessment of protein variant abundance by massively parallel sequencing
KA Matreyek, LM Starita, JJ Stephany, B Martin… - Nature …, 2018 - nature.com
Determining the pathogenicity of genetic variants is a critical challenge, and functional
assessment is often the only option. Experimentally characterizing millions of possible …
assessment is often the only option. Experimentally characterizing millions of possible …