Large structural variants in KOLF2.1J are unlikely to compromise neurological disease modelling
Ryan, M.; McDonough, J. A.; Ward, M. E.; Cookson, M. R.; Skarnes, W. C.; Merkle, F. T.
Show abstract
Gracia-Diaz and colleagues analysed high-density DNA microarray and whole genome sequencing (WGS) data from the KOLF2.1J reference human induced pluripotent stem cell (hiPSC) line1, and report the presence of five high-confidence heterozygous copy number variants (CNVs) at least 100kbp in length2. Since three of these CNVs span coding genes, some of which have been associated with neurodevelopmental disease, the authors raise the concern that these CNVs may compromise the utility of KOLF2.1J for neurological disease modelling. We appreciate their thorough analysis and thoughtful interpretation, and agree that potential users of this line should be made aware of all cases where KOLF2.1J differs from the reference genome. However, we believe that the benefits from the widespread use of KOLF2.1J outweigh the potential risks that might arise from the identified CNVs.
Matching journals
The top 13 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome 91%
- Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing 91%
- Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion 90%
Similar papers in this journal
Similar papers in this journal
- Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. 93%
- Comprehensive analyses of RNA-seq and genome-wide data point to enrichment of neuronal cell type subsets in neuropsychiatric disorders 93%
- Familial t(1;11) translocation is associated with disruption of white matter structural integrity and oligodendrocyte-myelin dysfunction 92%
Similar papers in this journal
Similar papers in this journal
- Variability vs Phenotype: multimodal analysis of Dravet Syndrome Brain Organoids powered by Deep Learning 91%
- Comparing the impact of sample multiplexing approaches for single-cell RNA-sequencing on downstream analysis using cerebellar organoids 90%
- Signatures Of TSPAN8 Variants Associated With Human Metabolic Regulation And Diseases 89%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.