Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …
Unique roles of rare variants in the genetics of complex diseases in humans
Y Momozawa, K Mizukami - Journal of human genetics, 2021 - nature.com
Genome-wide association studies have identified> 10,000 genetic variants associated with
various phenotypes and diseases. Although the majority are common variants, rare variants …
various phenotypes and diseases. Although the majority are common variants, rare variants …
Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients
AJ Bloom, X Mao, A Strickland, Y Sasaki… - Molecular …, 2022 - Springer
Background In response to injury, neurons activate a program of organized axon self-
destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …
destruction initiated by the NAD+ hydrolase, SARM1. In healthy neurons SARM1 is …
Genetics of amyotrophic lateral sclerosis
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
Causal genetic variants in stillbirth
KE Stanley, J Giordano, V Thorsten… - … England Journal of …, 2020 - Mass Medical Soc
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …
[HTML][HTML] Exome sequencing in genetic disease: recent advances and considerations
Over the past decade, exome sequencing (ES) has allowed significant advancements to the
field of disease research. By targeting the protein-coding regions of the genome, ES …
field of disease research. By targeting the protein-coding regions of the genome, ES …
ATAV: a comprehensive platform for population-scale genomic analyses
Background A common approach for sequencing studies is to do joint-calling and store
variants of all samples in a single file. If new samples are continually added or controls are …
variants of all samples in a single file. If new samples are continually added or controls are …
Sporadic amyotrophic lateral sclerosis skeletal muscle transcriptome analysis: a comprehensive examination of differentially expressed genes
E Gascón, P Zaragoza, AC Calvo, R Osta - Biomolecules, 2024 - mdpi.com
Amyotrophic lateral sclerosis (ALS) that comprises sporadic (sALS) and familial (fALS)
cases, is a devastating neurodegenerative disorder characterized by progressive …
cases, is a devastating neurodegenerative disorder characterized by progressive …
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease
Macular telangiectasia type 2 (MacTel) is a progressive, late-onset retinal degenerative
disease linked to decreased serum levels of serine that elevate circulating levels of a toxic …
disease linked to decreased serum levels of serine that elevate circulating levels of a toxic …
End‐truncated LAMB1 causes a hippocampal memory defect and a leukoencephalopathy
Objective The majority of patients with a familial cerebral small vessel disease (CSVD)
referred for molecular screening do not show pathogenic variants in known genes. In this …
referred for molecular screening do not show pathogenic variants in known genes. In this …