Modeling the complex genetic architectures of brain disease.
Modeling the complex genetic architectures of brain disease.
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DOI：
10.1038/s41588-020-0596-3
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发表时间：
2020-04
期刊：
影响因子：
30.8
通讯作者：
Brennand KJ
中科院分区：
文献类型：
--
作者：
Fernando MB;Ahfeldt T;Brennand KJ
The genetic architecture of each individual is comprised of common and rare variants acting alone and in combination to confer risk for disease. The cell-type-specific and/or context-dependent functional consequences of the risk variants linked to brain disease needs to be resolved. Coupling human induced pluripotent stem cell (hiPSC)-based technology with CRISPR-based genome engineering facilitates precise isogenic comparisons of variants across genetic backgrounds. Although functional validation studies are still typically performed of one variant in isolation, and in one cell type at a time, complex genetic diseases require multiplexed gene perturbations to interrogate combinations of genes and resolve physiologically relevant disease biology. Our aim is to discuss advances at the intersection of genomics, hiPSCs and CRISPR. A better understanding of the molecular mechanisms underlying disease risk will improve genetic diagnosis, drive phenotypic drug discovery, and pave the way towards precision medicine.
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影响因子：
30.8
作者：
Finucane HK;Reshef YA;Anttila V;Slowikowski K;Gusev A;Byrnes A;Gazal S;Loh PR;Lareau C;Shoresh N;Genovese G;Saunders A;Macosko E;Pollack S;Brainstorm Consortium;Perry JRB;Buenrostro JD;Bernstein BE;Raychaudhuri S;McCarroll S;Neale BM;Price AL
通讯作者：
Price AL
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64.8
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Birey F;Andersen J;Makinson CD;Islam S;Wei W;Huber N;Fan HC;Metzler KRC;Panagiotakos G;Thom N;O'Rourke NA;Steinmetz LM;Bernstein JA;Hallmayer J;Huguenard JR;Paşca SP
通讯作者：
Paşca SP
影响因子：
64.5
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Dixit, Atray;Pamas, Oren;Li, Biyu;Chen, Jenny;Fulco, Charles P.;Jerby-Amon, Livnat;Marjanovic, Nemanja D.;Dionne, Danielle;Burks, Tyler;Raychowdhury, Raktima;Adamson, Britt;Norman, Thomas M.;Lander, Eric S.;Weissman, Jonathan S.;Friedman, Nir;Regev, Aviv
通讯作者：
Regev, Aviv
DOI：
10.1016/j.omtm.2016.12.007
发表时间：
2017-03-17
期刊：
Molecular therapy. Methods & clinical development
影响因子：
--
作者：
Goto K;Imamura K;Komatsu K;Mitani K;Aiba K;Nakatsuji N;Inoue M;Kawata A;Yamashita H;Takahashi R;Inoue H
通讯作者：
Inoue H
影响因子：
64.8
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通讯作者：
Zhang F