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    Academic Journals

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• Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort.

  Authors:Florian Privé, Hugues Aschard, Shai Carmi, Lasse Folkersen, Clive Hoggart, Paul F. O'Reilly, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022376 words Report, Brief articl...

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• Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts.

  Authors:Sarocha Suthon, Jianjian Lin, Rachel S. Perkins, John R. Crockarell, Jr., Gustavo A. Miranda-Carboni, and Susan A. KrumFrom:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022340 words Report, Brief articl...

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• Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.

  Author:Douglas R. LangbehnFrom:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022315 words Brief article

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• Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.

  Authors:Zhe Zhang, Hyun Hyung An, Sunitha Vege, Taishan Hu, Shiping Zhang, Timothy Mosbruger, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022447 words Report

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• Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.

  Authors:Chen Tan, Lanlan Meng, Mingrong Lv, Xiaojin He, Yanwei Sha, Dongdong Tang, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022516 words Report

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• Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

  Authors:Sarah R. Senum, Ying (Sabrina) M. Li, Katherine A. Benson, Giancarlo Joli, Eric Olinger, Sravanthi Lavu, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022741 words Article

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• Rare coding variants in 35 genes associate with circulating lipid levels--A multi-ancestry analysis of 170,000 exomes.

  Authors:George Hindy, Peter Dornbos, Mark D. Chaffin, Dajiang J. Liu, Minxian Wang, Margaret Sunitha Selvaraj, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 20223,104 words Article

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• Overcoming constraints on the detection of recessive selection in human genes from population frequency data.

  Authors:Daniel J. Balick, Daniel M. Jordan, Shamil Sunyaev, and Ron DoFrom:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022285 words Report, Brief articl...

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• Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.

  Authors:Sarah M. Brotman, Chelsea K. Raulerson, Swarooparani Vadlamudi, Kevin W. Currin, Qiujin Shen, Victoria A. Parsons, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022408 words Report

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• Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.

  Authors:Heini M. Natri, Georgi Hudjashov, Guy Jacobs, Pradiptajati Kusuma, Lauri Saag, Chelzie Crenna Darusallam, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022411 words Report

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• Fast estimation of genetic correlation for biobank-scale data.

  Authors:Yue Wu, Kathryn S. Burch, Andrea Ganna, Päivi Pajukanta, Bogdan Pasaniuc, and Sriram SankararamanFrom:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022384 words Report, Brief articl...

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• Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.

  Authors:Koji Nakamura, Brett M. Reid, Ann Chen, Zhihua Chen, Ellen L. Goode, Jennifer B. Permuth, et al.From:American Journal of Human Genetics (Vol. 109, Issue 1) Peer-Reviewed

  Jan. 6, 2022472 words Report

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