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Research: Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation
- Alejandro Martin-Trujillo,
- Paras Garg,
- Nihir Patel,
- Bharati Jadhav,
- and Andrew J. Sharp
Genome Res. February 2023 33: 184-196; Published in Advance December 28, 2022, doi:10.1101/gr.277057.122
...15: 26,593,982–26,594,004; hg38) and methylation levels of multiple CpGs located in the promoter region of GABRB3 [MIM: 137192] (Fig. 2B), which has been suggested to play a role in neurotransmission and be involved in developmental and epileptic encephalopathy (Allen et al. 2013). Moreover, we also...
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Perspective: Genetic architecture of quantitative traits in mice, flies, and humans
- Jonathan Flint and
- Trudy F.C. Mackay
Genome Res. May 2009 19: 723-733; doi:10.1101/gr.086660.108
...this figure to be any less for any of the hundreds of other traits that could, and eventually will be examined. If so, pleiotropy will be the rule, not the exception. Demonstrating pleiotropy in QTL studies in mice and flies is more difficult since QTLs typically contain multiple genes: Disentangling...
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LETTER: Maternal Environment and Genotype Interact to Establish Diabesity in Mice
- Peter C. Reifsnyder,
- Gary Churchill,
- and Edward H. Leiter
Genome Res. October 1, 2000 10: 1568-1578; doi:10.1101/gr.147000
...– 333 . ↵ Lander E. , Kruglyak L. ( 1995 ) Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat. Genet. 11 : 241 – 247 . ↵ Legare M.E. , Bartlett F.S. , II , Frankel W.N. ( 2000 ) A major effect QTL determined by multiple genes in epileptic EL mice. Genome...
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Review: Contrasting genetic architectures in different mouse reference populations used for studying complex traits
- David A. Buchner and
- Joseph H. Nadeau
Genome Res. June 2015 25: 775-791; Published in Advance May 7, 2015, doi:10.1101/gr.187450.114
...for mapping complex trait genes involved a large study of 1904 HS mice and 298 of their parents (Valdar et al. 2006b). More than 800 QTLs were mapped to an average 95% confidence interval of 2.8 Mb. TheDOmicewere derived from random outcrosses among 160 of the completed and incipient CC strains derived from...
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Research: Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2
- Jonathan Nissenbaum,
- Marshall Devor,
- Ze'ev Seltzer,
- Mathias Gebauer,
- Martin Michaelis,
- Michael Tal,
- Ruslan Dorfman,
- Merav Abitbul-Yarkoni,
- Yan Lu,
- Tina Elahipanah,
- Sonia delCanho,
- Anne Minert,
- Kaj Fried,
- Anna-Karin Persson,
- Hagai Shpigler,
- Erez Shabo,
- Benjamin Yakir,
- Anne Pisanté,
- and Ariel Darvasi
Genome Res. September 2010 20: 1180-1190; Published in Advance August 5, 2010, doi:10.1101/gr.104976.110
...findings obtained in the mice. Future analysis of other independent human populations will definitely be of interest. Discussion In this study we applied an integrative approach to identify the gene underlying Pain1. Advanced fine-mapping strategies allowed us to locate the relevant QTL to a small interval...
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Method: A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model
- Laetitia Davidovic,
- Vincent Navratil,
- Carmela M. Bonaccorso,
- Maria Vincenza Catania,
- Barbara Bardoni,
- and Marc-Emmanuel Dumas
Genome Res. December 2011 21: 2190-2202; Published in Advance September 7, 2011, doi:10.1101/gr.116764.110
...)-based metabolic profiling, we have identified a metabolic signature and biomarkers associated with FXS in various brain regions of Fmr1 -deficient mice. Our study highlights for the first time that Fmr1 gene inactivation has profound, albeit coordinated consequences in brain metabolism leading to alterations...
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RESOURCE: EAnnot: A genome annotation tool using experimental evidence
- Li Ding,
- Aniko Sabo,
- Nicolas Berkowicz,
- Rekha R. Meyer,
- Yoram Shotland,
- Mark R. Johnson,
- Kymberlie H. Pepin,
- Richard K. Wilson,
- and John Spieth
Genome Res. December 2004 14: 2503-2509; doi:10.1101/gr.3152604
..., P., Duan, D., and Brent, M.R. 2001 . Integrating genomic homology into gene structure prediction. Bioinformatics 17 : S140 -S148. ↵ Legare, M.E., Bartlett II, F.S., and Frankel, W.N. 2000 . A major effect QTL determined by multiple genes in epileptic EL mice. Genome Res. 10 : 42 -48. ↵ Lukashin, A...

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