Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
Genetics of chronic kidney disease
A Vivante - New England Journal of Medicine, 2024 - Mass Medical Soc
Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
[HTML][HTML] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
D Pellerin, MC Danzi, C Wilke, M Renaud… - … England Journal of …, 2023 - Mass Medical Soc
Background The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant …
diagnosis. Methods We sequenced the genomes of six persons with autosomal dominant …
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 …
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Comprehensive genome annotation is essential to understand the impact of clinically
relevant variants. However, the absence of a standard for clinical reporting and browser …
relevant variants. However, the absence of a standard for clinical reporting and browser …
Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure
Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …
way proteins are made. Taking protein structure into account has therefore provided great …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
The UCSC genome browser database: 2021 update
For more than two decades, the UCSC Genome Browser database (https://genome. ucsc.
edu) has provided high-quality genomics data visualization and genome annotations to the …
edu) has provided high-quality genomics data visualization and genome annotations to the …
A structural variation reference for medical and population genetics
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …
consequences in evolution and human disease,. As national biobanks, disease-association …