Deciphering the impact of genomic variation on function
Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
functions to phenotypes in health and disease. Studying the differences in DNA sequence …
Scalable functional assays for the interpretation of human genetic variation
Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …
hundreds of thousands of coding and noncoding genetic variants in the human genome …
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 …
An Atlas of Variant Effects to understand the genome at nucleotide resolution
Sequencing has revealed hundreds of millions of human genetic variants, and continued
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
efforts will only add to this variant avalanche. Insufficient information exists to interpret the …
Will variants of uncertain significance still exist in 2030?
Summary In 2020, the National Human Genome Research Institute (NHGRI) made ten" bold
predictions," including that" the clinical relevance of all encountered genomic variants will be …
predictions," including that" the clinical relevance of all encountered genomic variants will be …
Lynch syndrome, molecular mechanisms and variant classification
Patients with the heritable cancer disease, Lynch syndrome, carry germline variants in the
MLH1, MSH2, MSH6 and PMS2 genes, encoding the central components of the DNA …
MLH1, MSH2, MSH6 and PMS2 genes, encoding the central components of the DNA …
Multimodal scanning of genetic variants with base and prime editing
Mutational scanning connects genetic variants to phenotype, enabling the interrogation of
protein functions, interactions and variant pathogenicity. However, current methodologies …
protein functions, interactions and variant pathogenicity. However, current methodologies …
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
EJ Radford, HK Tan, MHL Andersson… - Nature …, 2023 - nature.com
Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in
females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour …
females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour …
Precision medicine in rare diseases: What is next?
Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26
Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity
and clinical impact. Although phenotypically there is much overlap, known genetic causes …
and clinical impact. Although phenotypically there is much overlap, known genetic causes …