Search
Search Results
-
Adjusting for common variant polygenic scores improves yield in rare variant association analyses
With the emergence of large-scale sequencing data, methods for improving power in rare variant association tests are needed. Here we show that...
-
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
BackgroundA major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five...
-
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance,...
-
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing...
-
A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework...
-
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
BackgroundDilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic...
-
Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort
Some 50% of Finnish Lynch Syndrome (LS) cases are caused by a founder variant in MLH1 , in which the entire exon 16 has been lost due to an...
-
RNAseq based variant dataset in a black poplar association panel
ObjectiveBlack poplar ( Populus nigra L.) is a species native to Eurasia with a wide distribution area. It is an ecologically important species from...
-
MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret...
-
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum...
-
An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis
BackgroundAccurate variant calls from whole genome sequencing (WGS) of Plasmodium falciparum infections are crucial in malaria population genomics....
-
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Despite substantial progress, causal variants are identified only for a minority of familial Parkinson’s disease (PD) cases, leaving high-risk...
-
Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia
Meiotic arrest is a common pathologic phenotype of non-obstructive azoospermia (NOA), yet its genetic causes require further investigation. Meiotic...
-
A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 ( BRCA1 ) gene are very rare. Only a few have been described up to date, usually in...
-
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
BackgroundAs the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than...
-
Deciphering the omicron variant: integrated omics analysis reveals critical biomarkers and pathophysiological pathways
BackgroundThe rapid emergence and global dissemination of the Omicron variant of SARS-CoV-2 have posed formidable challenges in public health. This...
-
Rare-variant association analysis reveals known and new age-related hearing loss genes
Age-related (AR) hearing loss (HL) is a prevalent sensory deficit in the elderly population. Several studies showed that common variants increase...
-
EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and...
-
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
Neuromuscular disorders encompass a broad range of phenotypes and genetic causes. We investigated a consanguineous family in which multiple patients...
-
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large...
