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 …
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 …
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Summary Recommendations from the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing …
LC Walker, M de la Hoya, GAR Wiggins, A Lindy… - The American Journal of …, 2023 - cell.com
Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …
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 …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …
the genome that directly encode proteins. The important role of variants in non-coding …
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …
[HTML][HTML] Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen) …
P Horak, M Griffith, AM Danos, BA Pitel, S Madhavan… - Genetics in …, 2022 - Elsevier
Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …