Ultrarare Coding Variants and Cognitive Function in Schizophrenia
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Psychiatry"
DOI: 10.1001/jamapsychiatry.2022.2289
Abstract: Key Points Question Are ultrarare constrained variants (URCVs) associated with reduced cognitive function in individuals diagnosed with schizophrenia? Findings In this within-case genetic association study of 802 individuals with schizophrenia who had undergone exome sequencing… read more here.
Keywords: function; coding variants; cognitive function; ultrarare coding ... See more keywords
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer cell"
DOI: 10.1016/j.ccell.2020.12.011
Abstract: GenomePaint (https://genomepaint.stjude.cloud/) is an interactive visualization platform for whole-genome, whole-exome, transcriptome, and epigenomic data of tumor samples. Its design captures the inter-relatedness between DNA variations and RNA expression, supporting in-depth exploration of both individual cancer… read more here.
Keywords: coding variants; exploration coding; non coding; cancer ... See more keywords
De Novo Coding Variants Are Strongly Associated with Tourette Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.06.065
Abstract: Abstract Based on the contribution of de novo coding variants to other neurodevelopmental disorders, and their utility for hypothesis-naive gene discovery, we whole-exome sequenced 325 Tourette syndrome trios (311 passed quality control) from the TIC… read more here.
Keywords: novo coding; novo damaging; tourette syndrome; coding variants ... See more keywords
Investigating ELOVL7 coding variants in multiple system atrophy
Sign Up to like & getrecommendations! Published in 2021 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2021.135723
Abstract: Multiple system atrophy (MSA) is a rare sporadic, progressive parkinsonism characterised by autonomic dysfunction. A recent genome-wide association study reported an association at the Elongation of Very Long Fatty Acids Protein 7 (ELOVL7) locus with… read more here.
Keywords: system atrophy; multiple system; elovl7 coding; coding variants ... See more keywords
Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.95
Abstract: Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype–phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms.… read more here.
Keywords: coding variants; ttr amyloidosis; non coding; amyloidosis ... See more keywords
Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/ncomms14759
Abstract: Genome-wide association studies (GWAS) do not distinguish between single nucleotide polymorphisms (SNPs) that are causal and those that are merely in linkage-disequilibrium with causal mutations. Here we describe a versatile, functional pipeline and apply it… read more here.
Keywords: identification common; coding variants; non; non coding ... See more keywords
Association of low-frequency and rare coding variants with information processing speed
Sign Up to like & getrecommendations! Published in 2021 at "Translational Psychiatry"
DOI: 10.1038/s41398-021-01736-6
Abstract: Measures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine… read more here.
Keywords: coding variants; processing speed; information processing; rare coding ... See more keywords
Genetic associations of protein-coding variants in human disease
Sign Up to like & getrecommendations! Published in 2022 at "Nature"
DOI: 10.1038/s41586-022-04394-w
Abstract: Genome-wide association studies (GWAS) have identified thousands of genetic variants linked to the risk of human disease. However, GWAS have so far remained largely underpowered in relation to identifying associations in the rare and low-frequency… read more here.
Keywords: genetic associations; associations protein; disease; coding variants ... See more keywords
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.
Sign Up to like & getrecommendations! Published in 2021 at "Nature neuroscience"
DOI: 10.1038/s41593-021-00876-8
Abstract: Obsessive-compulsive disorder (OCD) affects 1-2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic risk. In this study, we performed exome sequencing in the… read more here.
Keywords: exome sequencing; coding variants; compulsive disorder; obsessive compulsive ... See more keywords
Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-03011-5
Abstract: Disease and trait-associated variants represent a tiny minority of all known genetic variation, and therefore there is necessarily an imbalance between the small set of available disease-associated and the much larger set of non-deleterious genomic… read more here.
Keywords: disease associated; non coding; imbalance aware; coding variants ... See more keywords
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Data"
DOI: 10.1038/sdata.2017.179
Abstract: To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple… read more here.
Keywords: coding variants; association statistics; frequency; association ... See more keywords