Posts Tagged ‘Bioinformatics’
Population-Based Penetrance of Deleterious Clinical Variants.
Link: https://doi.org/10.1001/jama.2021.23686 Authors: Forrest, Iain S; Chaudhary, Kumardeep; Vy, Ha My T; Petrazzini, Ben O; Bafna, Shantanu; Jordan, Daniel M; Rocheleau, Ghislain; Loos, Ruth J F; Nadkarni, Girish N; Cho, Judy H; Do, Ron Abstract: Population-based assessment of disease risk associated with gene variants informs clinical decisions and risk stratification approaches. To evaluate the population-based…
Read MoreAuthor Correction: Metabolic gatekeeper function of B-lymphoid transcription factors.
Link: https://doi.org/10.1038/s41586-018-0164-5 Authors: Chan, Lai N; Chen, Zhengshan; Braas, Daniel; Lee, Jae-Woong; Xiao, Gang; Geng, Huimin; Cosgun, Kadriye Nehir; Hurtz, Christian; Shojaee, Seyedmehdi; Cazzaniga, Valeria; Schjerven, Hilde; Ernst, Thomas; Hochhaus, Andreas; Kornblau, Steven M; Konopleva, Marina; Pufall, Miles A; Cazzaniga, Giovanni; Liu, Grace J; Milne, Thomas A; Koeffler, H Phillip; Ross, Theodora S; Sánchez-García, Isidro;…
Read MoreFederated Learning in Health care Using Structured Medical Data.
Link: https://doi.org/S2949-8139(22)00008-8 Authors: Oh, Wonsuk; Nadkarni, Girish N Abstract: The success of machine learning-based studies is largely subjected to accessing a large amount of data. However, accessing such data is typically not feasible within a single health system/hospital. Although multicenter studies are the most effective way to access a vast amount of data, sharing data…
Read MoreGenetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.
Link: https://doi.org/128227 Authors: Ho, Allen S; Ochoa, Angelica; Jayakumaran, Gowtham; Zehir, Ahmet; Valero Mayor, Cristina; Tepe, Justin; Makarov, Vladimir; Dalin, Martin G; He, Jie; Bailey, Mark; Montesion, Meagan; Ross, Jeffrey S; Miller, Vincent A; Chan, Lindsay; Ganly, Ian; Dogan, Snjezana; Katabi, Nora; Tsipouras, Petros; Ha, Patrick; Agrawal, Nishant; Solit, David B; Futreal, P Andrew; El…
Read MoreMaternal metabolic, immune, and microbial systems in late pregnancy vary with malnutrition in mice.
Link: https://doi.org/10.1093/biolre/ioy002 Authors: Connor, Kristin L; Chehoud, Christel; Altrichter, Adam; Chan, Luisa; DeSantis, Todd Z; Lye, Stephen J Abstract: Malnutrition is a global threat to pregnancy health and impacts offspring development. Establishing an optimal pregnancy environment requires the coordination of maternal metabolic and immune pathways, which converge at the gut. Diet, metabolic, and immune dysfunctions…
Read MoreGenome-wide polygenic risk score for retinopathy of type 2 diabetes.
Link: https://doi.org/10.1093/hmg/ddab067 Authors: Forrest, Iain S; Chaudhary, Kumardeep; Paranjpe, Ishan; Vy, Ha My T; Marquez-Luna, Carla; Rocheleau, Ghislain; Saha, Aparna; Chan, Lili; Van Vleck, Tielman; Loos, Ruth J F; Cho, Judy; Pasquale, Louis R; Nadkarni, Girish N; Do, Ron Abstract: Diabetic retinopathy (DR) is a common consequence in type 2 diabetes (T2D) and a leading…
Read MoreWhole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.
Link: https://doi.org/10.1093/hmg/ddy360 Authors: Polfus, Linda M; Raffield, Laura M; Wheeler, Marsha M; Tracy, Russell P; Lange, Leslie A; Lettre, Guillaume; Miller, Amanda; Correa, Adolfo; Bowler, Russell P; Bis, Joshua C; Salimi, Shabnam; Jenny, Nancy Swords; Pankratz, Nathan; Wang, Biqi; Preuss, Michael H; Zhou, Lisheng; Moscati, Arden; Nadkarni, Girish N; Loos, Ruth J F; Zhong, Xue;…
Read MoreAuthor Correction: The effect of LRRK2 loss-of-function variants in humans.
Link: https://doi.org/10.1038/s41591-020-01185-6 Authors: Whiffin, Nicola; Armean, Irina M; Kleinman, Aaron; Marshall, Jamie L; Minikel, Eric V; Goodrich, Julia K; Quaife, Nicholas M; Cole, Joanne B; Wang, Qingbo; Karczewski, Konrad J; Cummings, Beryl B; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A S; Merchant, Kalpana M; , ; , ; Ware,…
Read MoreEvaluation of the portability of computable phenotypes with natural language processing in the eMERGE network.
Link: https://doi.org/10.1038/s41598-023-27481-y Authors: Pacheco, Jennifer A; Rasmussen, Luke V; Wiley, Ken; Person, Thomas Nate; Cronkite, David J; Sohn, Sunghwan; Murphy, Shawn; Gundelach, Justin H; Gainer, Vivian; Castro, Victor M; Liu, Cong; Mentch, Frank; Lingren, Todd; Sundaresan, Agnes S; Eickelberg, Garrett; Willis, Valerie; Furmanchuk, Al’ona; Patel, Roshan; Carrell, David S; Deng, Yu; Walton, Nephi; Satterfield, Benjamin…
Read MoreMachine learning-based marker for coronary artery disease: derivation and validation in two longitudinal cohorts.
Link: https://doi.org/S0140-6736(22)02079-7 Authors: Forrest, Iain S; Petrazzini, Ben O; Duffy, Áine; Park, Joshua K; Marquez-Luna, Carla; Jordan, Daniel M; Rocheleau, Ghislain; Cho, Judy H; Rosenson, Robert S; Narula, Jagat; Nadkarni, Girish N; Do, Ron Abstract: Binary diagnosis of coronary artery disease does not preserve the complexity of disease or quantify its severity or its associated…
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