Spliceogen: an integrative, scalable tool for the discovery of splice-altering variants
Sign Up to like & getrecommendations! Published in 2019 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btz263
Abstract: MOTIVATION In silico prediction tools are essential for identifying variants which create or disrupt cis splicing motifs. However, there are limited options for genome-scale discovery of splice-altering variants. RESULTS We have developed Spliceogen, a highly… read more here.
Keywords: tool; altering variants; splice altering; discovery splice ... See more keywords
Rare, Protein-Altering Variants in AS3MT and Arsenic Metabolism Efficiency: A Multi-Population Association Study
Sign Up to like & getrecommendations! Published in 2021 at "Environmental Health Perspectives"
DOI: 10.1289/ehp8152
Abstract: Background: Common genetic variation in the arsenic methyltransferase (AS3MT) gene region is known to be associated with arsenic metabolism efficiency (AME), measured as the percentage of dimethylarsinic acid (DMA%) in the urine. Rare, protein-altering variants… read more here.
Keywords: altering variants; population; study; rare protein ... See more keywords
Search for rare protein altering variants influencing susceptibility to multiple myeloma
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.15874
Abstract: The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome sequencing… read more here.
Keywords: multiple myeloma; altering variants; protein altering; rare protein ... See more keywords
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.900280
Abstract: Background The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the… read more here.
Keywords: splice; deep intronic; altering variants; splice altering ... See more keywords