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Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
The genetic architecture of white matter lesions (WMLs) in Asian populations has not been well-characterized. Here, we per...
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity....
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Approximately 200 critically ill infants and children in New Zealand are in high-dependency care, many suspected of having...
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative spli...
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.(Gln21Argfs*12) and c.5517+1G&...
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients
Vincristine-induced peripheral neuropathy is a common and highly debilitating toxicity from vincristine treatment that aff...
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 ...
Clinical genome sequencing in patients with suspected rare genetic disease in Peru
Clinical genome sequencing in patients with suspected rare genetic disease in Peru
There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides ...
Severe traumatic injury is associated with profound changes in DNA methylation
Severe traumatic injury is associated with profound changes in DNA methylation
Whether DNA methylation changes follow human physical trauma is uncertain. We aimed to investigate if severe trauma was as...
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mi...
SLC16A8 is a causal contributor to age-related macular degeneration risk
SLC16A8 is a causal contributor to age-related macular degeneration risk
Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment world...
A genotype imputation reference panel specific for native Southeast Asian populations
A genotype imputation reference panel specific for native Southeast Asian populations
We report the development of a “Southeast Asian Specific (SEA-specific) Reference Panel” through a “Cros...
Systematic decision frameworks for the socially responsible use of precision medicine
Systematic decision frameworks for the socially responsible use of precision medicine
Deep learning techniques and whole-genome sequencing promise to increase well-being but also risk perpetuating psychologic...
Native Hawaiian and Pacific Islander populations in genomic research
Native Hawaiian and Pacific Islander populations in genomic research
The role of genomic research and medicine in improving health continues to grow significantly, highlighting the need for i...
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease
A fundamental question in human biology and for hematological disease is how do complex gene-environment interactions lead...
Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank
Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank
Rare copy-number variants associated with neurodevelopmental conditions (ND-CNVs) exhibit variable expressivity of clinica...
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma
Amplification of the MDM2 and CDK4 genes on chromosome 12 is commonly associated with low-grade osteosarcomas. In this stu...
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic vil...
Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders
Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders
The tissues of origin of plasma DNA can be revealed by methylation patterns. However, the relative DNA contributions from ...
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model
Accurately predicting patient outcomes is essential for optimizing treatment and improving outcomes in pediatric acute mye...
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for...
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants
The heterogeneity of systemic lupus erythematosus (SLE) can be explained by epigenetic alterations that disrupt transcript...
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an assoc...
Structure and transcription of integrated HPV DNA in vulvar carcinomas
Structure and transcription of integrated HPV DNA in vulvar carcinomas
HPV infections are associated with a fraction of vulvar cancers. Through hybridization capture and DNA sequencing, HPV DNA...
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing
Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia that primarily affects females. The only...
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients
To predict outcome to combination bevacizumab (BVZ) therapy, we employed cell-free DNA (cfDNA) to determine chromosomal in...
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease
Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are nee...
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates
Panel germline testing allows for the efficient detection of deleterious variants for multiple conditions, but the benefit...
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
replying to Wissinger, B. npj Genomic Medicine https://doi.org/10.1038/s41525-024-00406-y (2024)We re...
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
arising from Haer-Wigman, L. et al. npj Genomic Medicine https://doi.org/10.1038/s41525-022-00334-9 (...
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