To generate a panel of sequence polymorphisms to test for alleles with significant deviations in frequency between different subgroups of horses, we focused on identifying protein-coding variants in candidate g
Patterns of protein-coding variation The density of protein-coding sequence variation in ExAC reveals a number of properties of human genetic variation that are undetectable in smaller data sets. For example, 7.9% of high-quality sites in ExAC are multiallelic (multiple different sequence variants ob...
1. Rivas MA, Pirinen M, Conrad DF, et al. Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science. 2015;348(6235):666-9.2. 2. Exome Aggregation Consortium, Lek M, Karczewski KJ, et al. Analysis of protein-coding genetic variation in ...
To address this, we have intracranially serially passaged a clinical ZIKV isolate (SW01) in neonatal mice and discovered variants that exhibit markedly increased virulence and neurotropism. Deep sequencing analysis combining with molecular virology studies revealed that a single 67D (Aspartic acid) ...
Recently, molecular cytogenetic studies showed the presence of additional copies of protein-coding genes on B chromosomes. However, the transcriptional activity of these genes remained elusive. We studied karyotypes of the Siberian roe deer (Capreolus pygargus) that possess up to 14 B chromosomes to...
1, S1). The transcript variants encoding a C-terminal TMD have recently been found to localize to peroxisomes [7] (Table 1, Table 2; Fig. 4). The autophagy related protein Atg37 is the homolog of ACBD4/5 in fungi and likewise an ACB domain protein at the peroxisomal membrane. In ...
Deep sequencing of Danish Holstein genomes enabled us to identify 12.1 million variants. An investigation into LoF variants discovered a set of variants predicted to disrupt protein-coding genes. This catalog of variants will be a resource for future studies to understand variation underlying important...
A Python library for retrieving functional annotations of genes and analyzing the effects of genetic variants, currently focusing on proteomic data of protein-coding genes. - nadavbra/geneffect
Neurodegeneration is clearly not exclusively caused by imbalances in protein coding genes—it can also arise from dysregulation of ncRNAs. Over the past two decades, we have begun to understand that ncRNAs are not just “transcriptional noise” and have started to define their role in the CNS and...
Though many of these databases can be queried through features of gene and splice variants to obtain the underlying splice patterns and protein coding features, they generally do not allow the users to query for splice variants through specific changes in the composition of specific signatures (such...