Posts Tagged ‘Genetics’
Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts.
Link: https://doi.org/10.2337/dc21-1395 Authors: DiCorpo, Daniel; LeClair, Jessica; Cole, Joanne B; Sarnowski, Chloé; Ahmadizar, Fariba; Bielak, Lawrence F; Blokstra, Anneke; Bottinger, Erwin P; Chaker, Layal; Chen, Yii-Der I; Chen, Ye; de Vries, Paul S; Faquih, Tariq; Ghanbari, Mohsen; Gudmundsdottir, Valborg; Guo, Xiuqing; Hasbani, Natalie R; Ibi, Dorina; Ikram, M Arfan; Kavousi, Maryam; Leonard, Hampton L; Leong,…
Read MoreThe Polygenic and Monogenic Basis of Blood Traits and Diseases.
Link: https://doi.org/S0092-8674(20)30999-5 Authors: Vuckovic, Dragana; Bao, Erik L; Akbari, Parsa; Lareau, Caleb A; Mousas, Abdou; Jiang, Tao; Chen, Ming-Huei; Raffield, Laura M; Tardaguila, Manuel; Huffman, Jennifer E; Ritchie, Scott C; Megy, Karyn; Ponstingl, Hannes; Penkett, Christopher J; Albers, Patrick K; Wigdor, Emilie M; Sakaue, Saori; Moscati, Arden; Manansala, Regina; Lo, Ken Sin; Qian, Huijun; Akiyama,…
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 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 MorePenetrance of Deleterious Clinical Variants-Reply.
Link: https://doi.org/10.1001/jama.2022.4634 Authors: Forrest, Iain S; Nadkarni, Girish N; Do, Ron Abstract:
Read MoreAssociation of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.
Link: https://doi.org/10.1001/jama.2019.17935 Authors: Damrauer, Scott M; Chaudhary, Kumardeep; Cho, Judy H; Liang, Lusha W; Argulian, Edgar; Chan, Lili; Dobbyn, Amanda; Guerraty, Marie A; Judy, Renae; Kay, Jenna; Kember, Rachel L; Levin, Michael G; Saha, Aparna; Van Vleck, Tielman; Verma, Shefali S; Weaver, JoEllen; Abul-Husn, Noura S; Baras, Aris; Chirinos, Julio A; Drachman, Brian; Kenny, Eimear…
Read MorePopulation-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 MoreGenome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Link: https://doi.org/10.1038/s41467-022-34216-6 Authors: Levin, Michael G; Tsao, Noah L; Singhal, Pankhuri; Liu, Chang; Vy, Ha My T; Paranjpe, Ishan; Backman, Joshua D; Bellomo, Tiffany R; Bone, William P; Biddinger, Kiran J; Hui, Qin; Dikilitas, Ozan; Satterfield, Benjamin A; Yang, Yifan; Morley, Michael P; Bradford, Yuki; Burke, Megan; Reza, Nosheen; Charest, Brian; , ; Judy, Renae…
Read MoreInsights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.
Link: https://doi.org/10.1161/HYPERTENSIONAHA.122.19324 Authors: Kelly, Tanika N; Sun, Xiao; He, Karen Y; Brown, Michael R; Taliun, Sarah A Gagliano; Hellwege, Jacklyn N; Irvin, Marguerite R; Mi, Xuenan; Brody, Jennifer A; Franceschini, Nora; Guo, Xiuqing; Hwang, Shih-Jen; de Vries, Paul S; Gao, Yan; Moscati, Arden; Nadkarni, Girish N; Yanek, Lisa R; Elfassy, Tali; Smith, Jennifer A; Chung,…
Read MoreMulti-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.
Link: https://doi.org/10.1038/s41588-022-01058-3 Authors: Mahajan, Anubha; Spracklen, Cassandra N; Zhang, Weihua; Ng, Maggie C Y; Petty, Lauren E; Kitajima, Hidetoshi; Yu, Grace Z; Rüeger, Sina; Speidel, Leo; Kim, Young Jin; Horikoshi, Momoko; Mercader, Josep M; Taliun, Daniel; Moon, Sanghoon; Kwak, Soo-Heon; Robertson, Neil R; Rayner, Nigel W; Loh, Marie; Kim, Bong-Jo; Chiou, Joshua; Miguel-Escalada, Irene; Della…
Read More