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Method: Modeling gene interactions in polygenic prediction via geometric deep learning
- Han Li,
- Jianyang Zeng,
- Michael P. Snyder,
- and Sai Zhang
Genome Res. January 2025 35: 178-187; Published in Advance November 19, 2024, doi:10.1101/gr.279694.124
...; Gaiteri et al. 2016). Polygenic risk scores (PRSs) (Torkamani et al. 2018; Choi et al. 2020; Lewis and Vassos 2020), also known as polygenic scores (PGSs), have been developed to quantitatively estimate the genetic susceptibility of individuals to specific traits or diseases based on common variants (i...
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LETTER: An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
- John C. Fyfe,
- Marilyn Menotti-Raymond,
- Victor A. David,
- Lars Brichta,
- Alejandro A. Schäffer,
- Richa Agarwala,
- William J. Murphy,
- William J. Wedemeyer,
- Brittany L. Gregory,
- Bethany G. Buzzell,
- Meghan C. Drummond,
- Brunhilde Wirth,
- and Stephen J. O'Brien
Genome Res. September 2006 16: 1084-1090; Published in Advance August 9, 2006, doi:10.1101/gr.5268806
...speaking, the question still remains as to which of the deleted genes is the SMA disease gene or whether loss of both, or perhaps of an unidentified nonprotein coding sequence is required to produce the disease. Based on reported functionality and/or expression profiles, we suggest that LIX1 alone...
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LETTERS: Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3.
- R G Lafrenière,
- D L Rochefort,
- N Chrétien,
- C E Neville,
- R G Korneluk,
- L Zuo,
- Y Wei,
- J Lichter,
- and G A Rouleau
Genome Res. December 1996 6: 1216-1226; doi:10.1101/gr.6.12.1216
...of chromosome 21 have been observed in some HPE patients, and it has been postulated that haploinsufficiency of a gene in 21q22.3 is the genetic basis of the disease. Based on molecular analysis of DNA markers in 3 HPE patients with terminal deletions of chromo- some 21, the HPE1 gene has been mapped to a 5-Mb...
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