Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: rs114559032

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: IQCF1: R143H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer

Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L

Publication Date: 2021-02-23

Variant appearance in text: IQCF1: 428G>A; Arg143His

PubMed Link: 33622313

Variant Present in the following documents:

• 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: IQCF1: R143H; rs114559032

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: IQCF1: R143H; rs114559032

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: IQCF1: R143H

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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