Prevalence and meta-analysis of coding-sequence variant studies in ASD.Claire, S. LeblondCaroline, NavaAnne, PolgeJulie, GauthierGuillaume, HuguetSerge, LumbrosoFabienne, GiulianoColine, StordeurChristel, DepienneKevin, Mouzat
(GWASs). Studies that interrogate multiple common genetic variants along the genome in large cohorts of individuals to evaluate whether any variant is associated with a specific trait. Single nucleotide variants DNA sequence changes at single nucleotides. Somatic variants Variants that are not inherited...
We have previously demonstrated that the effects of reported atrial fibrillation variants on ECG traits measured in sinus rhythm range from none to extensive and there is no clear relationship between effects on atrial fibrillation and effects on ECG measures8. For example, a sequence variant associat...
Somatic mutation data: (1) The publicly available mutation WGS somatic and germline variant calls, mutational signatures, subclonal reconstructions, transcript abundance, splice calls and other core data generated by the ICGC/TCGA Pan-cancer Analysis of Whole Genomes Consortium are available for download...
VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations 资料: Variant effects on protein structure | EMBL-EBI Train online Predicting the effect of variation on protein structure and function ...
Construction of the coding sequence of the transcription variant 2 of the human renalase gene and its expression in the prokaryotic system. Fedchenko V I... V Fedchenko,A Kaloshin,L Mezhevikina,... - 《International Journal of Molecular Sciences》 被引量: 5发表: 2013年 IJMS, Vol. 14, ...
kbSNVTest Results MAFORP Value ESP-SequenceExome-ChipMeta-analysisESP-SequenceExome-ChipMeta-analysis Single-Variant Test Used SPSB3 16p13.3 16.989 Best, rs147735377 0.006 NA 58.225 58.225 NA 9.62 × 10−6 9.62 × 10−6 PDE4DIP 1q21.1 240.030 Best, rs1778155 0.302 2.40 ...
To compute predicted chromatin effects of variants using the DeepSEA model, for each SNP, we obtained the 1,000-bp sequence centered on that variant based on the reference genome (specifically, the sequence is chosen so that the variant was located at the 500th nucleotide). Then we constructed...
This suggests that the sequences are variants of ovine KRTAP15-1. Among these four sequences, six nucleotide substitutions were identified in the coding region and four of the substitutions were non-synonymous. Breed differences in variant frequencies were observed. A was the most common variant ...
Association of a genetic variant in microRNA-146a with risk of colorectal cancer: a population-based case-control study Tumour Biol., 35 (2014), pp. 6961-6967 CrossrefView in ScopusGoogle Scholar 39 A. Kozomara, M. Birgaoanu, S. Griffiths-Jones miRBase: from microRNA sequences to funct...