https://academic.oup.com/genetics/article/211/4/1125/5931511
Visscher, P. M., & Goddard, M. E. (2019). From R.A. Fisher’s 1918 paper to GWAS a century later. Genetics, 211(4), 1125–1130.
https://doi.org/10.1534/genetics.118.301594
Archive for the 'SciLit' Category
From R.A. Fisher’s 1918 Paper to GWAS a Century Later | Genetics | Oxford Academic
January 1, 2026The human disease network | PNAS
January 1, 2026https://www.pnas.org/doi/10.1073/pnas.0701361104?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed QT:{{” We find that essential human genes are likely to encode hub proteins and are expressed widely in most tissues. This suggests that disease genes also would play a central role in the human interactome. In contrast, we find that the vast majority of disease genes are nonessential and show no tendency to encode hub proteins, and their expression pattern indicates that they are localized in the functional periphery of the network. “}}
Goh, K., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A. (2007). The human disease network. Proceedings of the National Academy of Sciences, 104(21), 8685–8690.
https://doi.org/10.1073/pnas.0701361104
Creating a functional single-chromosome yeast – PubMed
December 29, 2025https://pubmed.ncbi.nlm.nih.gov/30069045/
QT:{{” Eukaryotic genomes are generally organized in multiple chromosomes. Here we have created a functional single-chromosome yeast from a Saccharomyces cerevisiae haploid cell containing sixteen linear chromosomes, by successive end-to-end chromosome fusions and centromere deletions. The fusion of sixteen native linear chromosomes into a single chromosome results in marked changes to the global three-dimensional structure of the chromosome due to the loss of all centromere-associated inter-chromosomal interactions, most
telomere-associated inter-chromosomal interactions and 67.4% of intra-chromosomal interactions. However, the single-chromosome and wild-type yeast cells have nearly identical transcriptome and similar phenome profiles. The giant single chromosome can support cell life, although this strain shows reduced growth across environments, competitiveness, gamete production and viability. “}}
The Mediator complex: a central integrator of transcription | Nature Reviews Molecular Cell Biology
December 29, 2025https://www.nature.com/articles/nrm3951
Allen, B. L., & Taatjes, D. J. (2015). The Mediator complex: a central integrator of transcription. Nature Reviews Molecular Cell Biology, 16(3), 155–166. https://doi.org/10.1038/nrm3951
Psychotic symptoms in bipolar disorder and their impact on the illness: A systematic review
December 23, 2025Chakrabarti, S., & Singh, N. (2022). Psychotic symptoms in bipolar disorder and their impact on the illness: A systematic review. World Journal of Psychiatry, 12(9), 1204–1232.
https://doi.org/10.5498/wjp.v12.i9.1204
Creation of a bacterial cell controlled by a chemically synthesized genome – PubMed
December 23, 2025https://pubmed.ncbi.nlm.nih.gov/20488990/
Gibson, D. G., Glass, J. I., Lartigue, C., Noskov, V. N., Chuang, R., Algire, M. A., Benders, G. A., Montague, M. G., Ma, L., Moodie, M. M., Merryman, C., Vashee, S., Krishnakumar, R., Assad-Garcia, N., Andrews-Pfannkoch, C., Denisova, E. A., Young, L., Qi, Z.,
Segall-Shapiro, T. H., . . . Venter, J. C. (2010). Creation of a bacterial cell controlled by a chemically synthesized genome. Science, 329(5987), 52–56. https://doi.org/10.1126/science.1190719
booting up a synthetic genome JCVI-syn1.0
How to use likelihood ratios to interpret evidence from randomized trials – ScienceDirect
November 30, 2025Rare genetic variants confer a high risk of ADHD and implicate neuronal biology | Nature
November 23, 2025https://www.nature.com/articles/s41586-025-09702-8
Demontis, D., Duan, J., Hsu, Y. H., Pintacuda, G., Grove, J., Nielsen, T. T., Thirstrup, J., Martorana, M., Botts, T., Satterstrom, F. K., Bybjerg-Grauholm, J., Tsai, J. H. Y., Glerup, S., Hoogman, M., Buitelaar, J., Klein, M., Ziegler, G. C., Jacob, C., Grimm, O., . . . Børglum, A. D. (2025). Rare genetic variants confer a high risk of ADHD and implicate neuronal biology. Nature.
https://doi.org/10.1038/s41586-025-09702-8
QT:{{”
Common genetic variants associated with the disorder have been identified12,13, but the role of rare variants in ADHD is mostly unknown. Here, by analysing rare coding variants in exome-sequencing data from 8,895 individuals with ADHD and 53,780 control individuals, we identify three genes (MAP1A, ANO8 and ANK2; P < 3.07 × 10−6; odds ratios 5.55–15.13) that are implicated in ADHD.
“}}
Follow-up on error-controlled hypothesis generation
November 22, 2025Chen, W., Jiang, Y., Noble, W. S., & Lu, Y. Y. (2025).
Error-controlled non-additive interaction discovery in machine learning models. Nature Machine Intelligence, 7(9), 1541–1554. https://doi.org/10.1038/s42256-025-01086-8
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