Liam Abrahams
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View article: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders Open
Background Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while ensuring high recall are critical to successful mainstream clinical genomic …
View article: Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption
Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption Open
Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. The latter postulates that exon…
View article: A RCT for assessment of active human-centred learning finds teacher-centric non-human teaching of evolution optimal
A RCT for assessment of active human-centred learning finds teacher-centric non-human teaching of evolution optimal Open
View article: A Depletion of Stop Codons in lincRNA is Owing to Transfer of Selective Constraint from Coding Sequences
A Depletion of Stop Codons in lincRNA is Owing to Transfer of Selective Constraint from Coding Sequences Open
Although the constraints on a gene’s sequence are often assumed to reflect the functioning of that gene, here we propose transfer selection, a constraint operating on one class of genes transferred to another, mediated by shared binding fa…
View article: Refining the Ambush Hypothesis: Evidence That GC- and AT-Rich Bacteria Employ Different Frameshift Defence Strategies
Refining the Ambush Hypothesis: Evidence That GC- and AT-Rich Bacteria Employ Different Frameshift Defence Strategies Open
Stop codons are frequently selected for beyond their regular termination function for error control. The "ambush hypothesis" proposes out-of-frame stop codons (OSCs) terminating frameshifted translations are selected for. Although early in…
View article: Adenine Enrichment at the Fourth CDS Residue in Bacterial Genes Is Consistent with Error Proofing for +1 Frameshifts
Adenine Enrichment at the Fourth CDS Residue in Bacterial Genes Is Consistent with Error Proofing for +1 Frameshifts Open
Beyond selection for optimal protein functioning, coding sequences (CDSs) are under selection at the RNA and DNA levels. Here, we identify a possible signature of "dual-coding," namely extensive adenine (A) enrichment at bacterial CDS four…
View article: Acquired resistance to oxaliplatin is not directly associated with increased resistance to DNA damage in SK-N-ASrOXALI4000, a newly established oxaliplatin-resistant sub-line of the neuroblastoma cell line SK-N-AS
Acquired resistance to oxaliplatin is not directly associated with increased resistance to DNA damage in SK-N-ASrOXALI4000, a newly established oxaliplatin-resistant sub-line of the neuroblastoma cell line SK-N-AS Open
The formation of acquired drug resistance is a major reason for the failure of anti-cancer therapies after initial response. Here, we introduce a novel model of acquired oxaliplatin resistance, a sub-line of the non-MYCN-amplified neurobla…