The genetics and pathogenesis of CAKUT
CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …
malformations that arise from defective kidney or urinary tract development and frequently …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
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 …
implementing whole genome sequencing (WGS) in clinical practice: advantages, challenges, and future perspectives
The integration of whole genome sequencing (WGS) into all aspects of modern medicine
represents the next step in the evolution of healthcare. Using this technology, scientists and …
represents the next step in the evolution of healthcare. Using this technology, scientists and …
Genome-wide prediction of disease variant effects with a deep protein language model
Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …
models have improved variant effect prediction accuracy, they cannot analyze all coding …
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 …
[HTML][HTML] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of …
ER Riggs, EF Andersen, AM Cherry, S Kantarci… - 2020 - Elsevier
Purpose Copy-number analysis to detect disease-causing losses and gains across the
genome is recommended for the evaluation of individuals with neurodevelopmental …
genome is recommended for the evaluation of individuals with neurodevelopmental …
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence
can support physicians in recognizing these patterns by associating facial phenotypes with …
can support physicians in recognizing these patterns by associating facial phenotypes with …
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 …
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for
classifying variants based on several benign and pathogenic evidence criteria, including a …
classifying variants based on several benign and pathogenic evidence criteria, including a …