Daniel Tabet
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View article: Systematic and proactive evaluation of AIRE missense variant effects
Systematic and proactive evaluation of AIRE missense variant effects Open
Pathogenic variants in the Autoimmune Regulator (AIRE) gene cause Autoimmune Polyendocrine Syndrome Type 1 (APS-1), a rare primary immunodeficiency disease with symptoms including hypoparathyroidism, adrenal insufficiency, and chronic muco…
View article: The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i>
The functional landscape of coding variation in the familial hypercholesterolemia gene <i>LDLR</i> Open
Variants in the familial hypercholesterolemia gene LDLR —the most important genetic driver of cardiovascular disease—can raise circulating low-density lipoprotein (LDL) cholesterol concentrations and increase the risk of premature atherosc…
View article: Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy Open
Background An estimated 1 in 500 people live with hypertrophic cardiomyopathy (HCM), a disease for which genetic diagnosis can identify family members at risk, and increasingly guide therapy. Mutations in the myosin binding protein C3 ( MY…
View article: Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries Open
Motivation Long-read sequencing technologies, an attractive solution for many applications, often suffer from higher error rates. Alignment of multiple reads can improve base-calling accuracy, but some applications, e.g. sequencing mutagen…
View article: Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR/Cas9 screens
Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR/Cas9 screens Open
Zhao et al. performed phenotypic CRISPR screens to uncover genes and pathways that suppress DNA damage in human cells.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect Open
Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques across diverse disciplines…
View article: Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries Open
Summary Long read sequencing technologies, an attractive solution for many applications, often suffer from higher error rates. Alignment of multiple reads can improve base-calling accuracy, but some applications, e.g. sequencing mutagenize…
View article: Additional file 2 of A comprehensive map of human glucokinase variant activity
Additional file 2 of A comprehensive map of human glucokinase variant activity Open
Additional file 2.
View article: Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesis
Genome-scale mapping of DNA damage suppressors identifies GNB1L as essential for ATM and ATR biogenesis Open
To maintain genome integrity, cells must avoid DNA damage by ensuring the accurate duplication of the genome and by having efficient repair and signaling systems that counteract the genome-destabilizing potential of DNA lesions. To uncover…
View article: A comprehensive map of human glucokinase variant activity
A comprehensive map of human glucokinase variant activity Open
Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia (HH) or hyperglycemia associated with GCK-maturity-onset diabetes o…