[HTML][HTML] Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
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 …
[HTML][HTML] Expanding ACMG variant classification guidelines into a general framework
Abstract Background The American College of Medical Genetics and Genomics (ACMG)-
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
recommended five variant classification categories (pathogenic, likely pathogenic, uncertain …
[HTML][HTML] Stepwise ABC system for classification of any type of genetic variant
Abstract The American College of Medical Genetics and Genomics a nd the Association for
Molecular Pathology (ACMG-AMP) system for variant classification is score based with five …
Molecular Pathology (ACMG-AMP) system for variant classification is score based with five …
[HTML][HTML] ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
AE Minoche, B Lundie, GB Peters, T Ohnesorg… - Genome Medicine, 2021 - Springer
Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for
the detection of structural variants (SV) including copy number variants (CNVs), but has …
the detection of structural variants (SV) including copy number variants (CNVs), but has …
[HTML][HTML] Whole genome sequencing in the evaluation of fetal structural anomalies: a parallel test with chromosomal microarray plus whole exome sequencing
J Zhou, Z Yang, J Sun, L Liu, X Zhou, F Liu, Y Xing… - Genes, 2021 - mdpi.com
Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but
relevant clinical studies in the field of prenatal diagnosis are limited. The present study …
relevant clinical studies in the field of prenatal diagnosis are limited. The present study …
[HTML][HTML] The role of alpha-synuclein and other Parkinson's genes in neurodevelopmental and neurodegenerative disorders
Neurodevelopmental and late-onset neurodegenerative disorders present as separate
entities that are clinically and neuropathologically quite distinct. However, recent evidence …
entities that are clinically and neuropathologically quite distinct. However, recent evidence …
A cloud-based platform for soybean plant disease classification using archimedes optimization based hybrid deep learning model
Bean which is botanically called Phaseolus vulgaris L. belongs to the Fabaceae family.
Unnecessary economic losses arise during bean disease identification due to a delay in …
Unnecessary economic losses arise during bean disease identification due to a delay in …
Practical guide to genetic screening for inherited eye diseases
C Méjécase, S Malka, Z Guan, A Slater… - Therapeutic …, 2020 - journals.sagepub.com
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular
aetiology remains unknown in the majority. The identification of disease-causing gene …
aetiology remains unknown in the majority. The identification of disease-causing gene …
Diagnosis of genetic white matter disorders by singleton whole-exome and genome sequencing using interactome-driven prioritization
A Schlüter, A Rodríguez-Palmero, E Verdura… - Neurology, 2022 - AAN Enterprises
Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous
origin, with> 100 causal genes identified to date. Classic targeted approaches achieve a …
origin, with> 100 causal genes identified to date. Classic targeted approaches achieve a …