Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers
G Federici, S Soddu - Journal of Experimental & Clinical Cancer Research, 2020 - Springer
The promising expectations about personalized medicine have opened the path to routine
large-scale sequencing and increased the importance of genetic counseling for hereditary …
large-scale sequencing and increased the importance of genetic counseling for hereditary …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation
Structural resolution of protein interactions enables mechanistic and functional studies as
well as interpretation of disease variants. However, structural data is still missing for most …
well as interpretation of disease variants. However, structural data is still missing for most …
The genetic landscape of the human solute carrier (SLC) transporter superfamily
L Schaller, VM Lauschke - Human genetics, 2019 - Springer
The human solute carrier (SLC) superfamily of transporters is comprised of over 400
membrane-bound proteins, and plays essential roles in a multitude of physiological and …
membrane-bound proteins, and plays essential roles in a multitude of physiological and …
The clinical imperative for inclusivity: race, ethnicity, and ancestry (REA) in genomics
Abstract The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group
highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data …
highlights the need to develop guidance on race, ethnicity, and ancestry (REA) data …
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 …
Defining the cell surface cysteinome using two-step enrichment proteomics
The plasma membrane proteome is a rich resource of functionally important and
therapeutically relevant protein targets. Distinguished by high hydrophobicity, heavy …
therapeutically relevant protein targets. Distinguished by high hydrophobicity, heavy …
Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select
Determining the functional role of thousands of genetic sequence variants (mutations)
associated with genetic diseases is a major challenge. Here we present clustered regularly …
associated with genetic diseases is a major challenge. Here we present clustered regularly …
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases
S Chu, X Xie, C Payan, U Stochaj - Molecular Neurodegeneration, 2023 - Springer
The AAA+ ATPase valosin containing protein (VCP) is essential for cell and organ
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
E Pérez-Palma, M Gramm, P Nürnberg… - Nucleic acids …, 2019 - academic.oup.com
Clinical genetic testing has exponentially expanded in recent years, leading to an
overwhelming amount of patient variants with high variability in pathogenicity and …
overwhelming amount of patient variants with high variability in pathogenicity and …