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Volume 111(5);  2024 May 2

Articles from this journal are generally available in PMC after a 6-month delay (embargo); however, the delay may vary at the discretion of the publisher.

Review

Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds
Ying Wang, Yixuan He, Yue Shi, David C. Qian, Kathryn J. Gray, Robert Winn, Alicia R. Martin
Am J Hum Genet. 2024 May 2; 111(5): 809–824. Published online 2024 Apr 19. doi: 10.1016/j.ajhg.2024.04.002
PMCID:
PMC11080611

Perspective

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations
Ana S.A. Cohen, Courtney D. Berrios, Tricia N. Zion, Cassandra M. Barrett, Riley Moore, Emelia Boillat, Bradley Belden, Emily G. Farrow, Isabelle Thiffault, Britton D. Zuccarelli, Tomi Pastinen
Am J Hum Genet. 2024 May 2; 111(5): 825–832. Published online 2024 Apr 17. doi: 10.1016/j.ajhg.2024.03.016
PMCID:
PMC11080604
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues
Michelle N. Meyer, Nicholas W. Papageorge, Erik Parens, Alan Regenberg, Jeremy Sugarman, Kevin Thom
Am J Hum Genet. 2024 May 2; 111(5): 833–840. Published online 2024 May 2. doi: 10.1016/j.ajhg.2024.03.010
PMCID:
PMC11080274

Articles

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Shenglan Li, Sen Zhao, Jefferson C. Sinson, Aleksandar Bajic, Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J. Craigen, Gary D. Clark, Seema Lalani, Carlos A. Bacino, Keren Machol, Hsiao-Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer Sheppard, My T.T. Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh CS. Nagamani, Zhandong Liu, Undiagnosed Diseases Network, Christine M. Eng, Brendan Lee, Pengfei Liu
Am J Hum Genet. 2024 May 2; 111(5): 841–862. Published online 2024 Apr 8. doi: 10.1016/j.ajhg.2024.03.007
PMCID:
PMC11080285
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich, Lynn Pais, Christina Austin-Tse, Stephanie DiTroia, Emily O’Heir, Vijay S. Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei-Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandre Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell-Luria
Am J Hum Genet. 2024 May 2; 111(5): 863–876. Published online 2024 Apr 1. doi: 10.1016/j.ajhg.2024.03.008
PMCID:
PMC11080278
Toward clinical exomes in diagnostics and management of male infertility
Kristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, Anu Valkna, Avirup Dutta, Kristjan Pomm, Olev Poolamets, Liina Nagirnaja, Erik Tamp, Eisa Mahyari, Vladimir Vihljajev, Stanislav Tjagur, Sofia Papadimitriou, Antoni Riera-Escamilla, Nassim Versbraegen, Ginevra Farnetani, Helen Castillo-Madeen, Mailis Sütt, Viljo Kübarsepp, Sven Tennisberg, Paul Korrovits, Csilla Krausz, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Margus Punab, Maris Laan
Am J Hum Genet. 2024 May 2; 111(5): 877–895. Published online 2024 Apr 12. doi: 10.1016/j.ajhg.2024.03.013
PMCID:
PMC11080280
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
Sonoko Saito, Yuki Saito, Showbu Sato, Satomi Aoki, Harumi Fujita, Yoshihiro Ito, Noriko Ono, Takeru Funakoshi, Tomoko Kawai, Hisato Suzuki, Takashi Sasaki, Tomoyo Tanaka, Masukazu Inoie, Kenichiro Hata, Keisuke Kataoka, Kenjiro Kosaki, Masayuki Amagai, Kazuhiko Nakabayashi, Akiharu Kubo.
Am J Hum Genet. 2024 May 2; 111(5): 896–912. Published online 2024 Apr 22. doi: 10.1016/j.ajhg.2024.03.017
PMCID:
PMC11080608
Radhia Kacher, François-Xavier Lejeune, Isabelle David, Susana Boluda, Giulia Coarelli, Sabrina Leclere-Turbant, Anna Heinzmann, Cecilia Marelli, Perrine Charles, Cyril Goizet, Nisha Kabir, Rania Hilab, Ludmila Jornea, Julie Six, Marc Dommergues, Anne-Laure Fauret, Alexis Brice, Sandrine Humbert, Alexandra Durr
Am J Hum Genet. 2024 May 2; 111(5): 913–926. Published online 2024 Apr 15. doi: 10.1016/j.ajhg.2024.03.015
PMCID:
PMC11080609
Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans
Michael A. McQuillan, Simon Verhulst, Matthew E.B. Hansen, William Beggs, Dawit Wolde Meskel, Gurja Belay, Thomas Nyambo, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Charles Fokunang, Alfred K. Njamnshi, Stephen J. Chanock, Abraham Aviv, Sarah A. Tishkoff
Am J Hum Genet. 2024 May 2; 111(5): 927–938. Published online 2024 May 2. doi: 10.1016/j.ajhg.2024.04.003
PMCID:
PMC11080607
Noriko Funato, Arja Heliövaara, Cedric Boeckx
Am J Hum Genet. 2024 May 2; 111(5): 939–953. Published online 2024 Apr 11. doi: 10.1016/j.ajhg.2024.03.012
PMCID:
PMC11080286
A new test for trait mean and variance detects unreported loci for blood-pressure variation
Joseph H. Breeyear, Brian S. Mautz, Jacob M. Keaton, Jacklyn N. Hellwege, Eric S. Torstenson, Jingjing Liang, Michael J. Bray, Ayush Giri, Helen R. Warren, Patricia B. Munroe, Digna R. Velez Edwards, Xiaofeng Zhu, Chun Li, Todd L. Edwards
Am J Hum Genet. 2024 May 2; 111(5): 954–965. Published online 2024 Apr 12. doi: 10.1016/j.ajhg.2024.03.014
PMCID:
PMC11080606
A powerful approach to identify replicable variants in genome-wide association studies
Yan Li, Haochen Lei, Xiaoquan Wen, Hongyuan Cao
Am J Hum Genet. 2024 May 2; 111(5): 966–978. Published online 2024 May 2. doi: 10.1016/j.ajhg.2024.04.004
PMCID:
PMC11080610
Imputation accuracy across global human populations
Jordan L. Cahoon, Xinyue Rui, Echo Tang, Christopher Simons, Jalen Langie, Minhui Chen, Ying-Chu Lo, Charleston W.K. Chiang
Am J Hum Genet. 2024 May 2; 111(5): 979–989. Published online 2024 Apr 10. doi: 10.1016/j.ajhg.2024.03.011
PMCID:
PMC11080279

Report

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric
Quan Sun, Yingxi Yang, Jonathan D. Rosen, Jiawen Chen, Xihao Li, Wyliena Guan, Min-Zhi Jiang, Jia Wen, Rhonda G. Pace, Scott M. Blackman, Michael J. Bamshad, Ronald L. Gibson, Garry R. Cutting, Wanda K. O’Neal, Michael R. Knowles, Charles Kooperberg, Alexander P. Reiner, Laura M. Raffield, April P. Carson, Stephen S. Rich, Jerome I. Rotter, Ruth J.F. Loos, Eimear Kenny, Byron C. Jaeger, Yuan-I Min, Christian Fuchsberger, Yun Li
Am J Hum Genet. 2024 May 2; 111(5): 990–995. Published online 2024 Apr 17. doi: 10.1016/j.ajhg.2024.04.001
PMCID:
PMC11080605

Correction

Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch, Louise Cleal, Nadia Shaukat Ali, Mohammed A. Al-Owain, William Allen, Janine Altmüller, Miriam Aza-Carmona, Bushra A.Y. Barakat, Jimena Barraza-García, Amber Begtrup, Massimo Bogliolo, Megan T. Cho, Jaime Cruz-Rojo, Hassan Ali Mundi Dhahrabi, Nursel H. Elcioglu, GOSgene, Gráinne S. Gorman, Rebekah Jobling, Ian Kesterton, Yoshihito Kishita, Masakazu Kohda, Polona Le Quesne Stabej, Asam Jassim Malallah, Peter Nürnberg, Akira Ohtake, Yasushi Okazaki, Roser Pujol, Maria José Ramirez, Anya Revah-Politi, Masaru Shimura, Paul Stevens, Robert W. Taylor, Lesley Turner, Hywel Williams, Carolyn Wilson, Gökhan Yigit, Laura Zahavich, Fowzan S. Alkuraya, Jordi Surralles, Alejandro Iglesias, Kei Murayama, Bernd Wollnik, Mehul Dattani, Karen E. Heath, Ian D. Hickson, Andrew P. Jackson
Am J Hum Genet. 2024 May 2; 111(5): 996. Published online 2024 May 2. doi: 10.1016/j.ajhg.2024.04.008
PMCID:
PMC11080603

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics