This study conducts a GWAS of Native Hawaiians and Polynesian-ancestry populations to identify population-enriched genetic associations for cardiometabolic traits, confirming some variants and highlighting the need for larger cohorts.

medRxiv · May 12, 2026 · PreprintGenetic & Genomic Medicine

Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing

Xin Sheng, Lucy Y. Xia, Jordan Li Cahoon, David V. Conti, Christopher A. Haiman, Linda Kachuri, Charleston W. K. Chiang

The paper identifies inverted genomic regions between human reference genome builds that affect imputation accuracy and association testing power, proposing a heuristic to correct these issues.

Human Genetics and Genomics Advances · Nov 11, 2022Peer-reviewedGenomics

Associations of Minor Histocompatibility Antigens with Clinical Outcomes Following Allogeneic Hematopoietic Cell Transplantation

Othmane Jadi, Hancong Tang, Kelly Shea Olsen, Steven P. Vensko II, Qianqian Zhu, Yiwen Wang, Christopher A. Haiman, Loreall Pooler, Xin Sheng, Guy Nathaniel Brock, Amy Webb, Marcelo C. Pasquini, Philip L. McCarthy, Stephen R. Spellman, Theresa Hahn, , Lara E. Sucheston‐Campbell

This study investigates the association between predicted minor histocompatibility antigens (mHAs) and clinical outcomes in allogeneic hematopoietic cell transplantation using multivariate survival models.

bioRxiv · Aug 31, 2022 · PreprintGenetics

Genome-wide association analyses identify variants in IRF4 associated with acute myeloid leukemia and myelodysplastic syndrome susceptibility

Junke Wang, Alyssa Clay‐Gilmour, Ezgi Karaesmen, Abbas Rizvi, Qianqian Zhu, Li Yan, Leah M. Preus, Song Liu, Yiwen Wang, Elizabeth A. Griffiths, Daniel O. Stram, Loreall Pooler, Xin Sheng, Christopher A. Haiman, David Van Den Berg, , Lara E. Sucheston‐Campbell

This study identifies IRF4 variants associated with increased risk of de novo AML and MDS through GWAS and TWAS analyses using the DISCOVeRY-BMT cohorts.

Frontiers in Genetics · Jun 17, 2021Peer-reviewedGenomics

Population specific reference panels are crucial for the genetic analyses of Native Hawai’ians: an example of the CREBRF locus

Meng Hsuan Lin, Christian Caberto, Peggy C. Wan, Yuqing Li, Annette Lum‐Jones, Maarit Tiirikainen, Loreall Pooler, Brooke Naomi Nakamura, Xin Sheng, Jacqueline Porcel, Unhee Lim, Veronica Wendy Setiawan, Loı̈c Le Marchand, Lynne Ross Wilkens, Christopher A. Haiman, , Charleston W. K. Chiang

The paper shows that lack of Polynesian representation in genetic reference panels hinders discovery of population-specific variants, but accurate imputation is possible with a small number of Polynesian references.

bioRxiv · Oct 1, 2019 · PreprintGenetics

The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

Genevieve L. Wojcik, Mariaelisa Graff, Katherine K Nishimura, Ran Tao, Jeffrey Haessler, Christopher R. Gignoux, Heather M Highland, Yesha M Patel, Elena P. Sorokin, Christy L Avery, Gillian M Belbin, Stephanie A Bien, Iona C. Cheng, Sinead Cullina, Chani J Hodonsky, , Christopher S Carlson

The paper conducts a GWAS in non-European populations, identifies new genetic loci, and highlights the importance of diverse cohorts for understanding complex traits.

bioRxiv · Oct 17, 2018 · PreprintGenetics

The contribution of rare variation to prostate cancer heritability

Nicholas Mancuso, Nadin Rohland, Kristin Rand, Arti Tandon, Alexander Allen, Dominique Quinque, Swapan Mallick, Heng Li, Alex Stram, Xin Sheng, Zsofia Kote-Jarai, Douglas F Easton, Rosalind A Eeles, the PRACTICAL consortium, Loic Le Marchand, , David Reich

This study investigates the role of rare genetic variation in prostate cancer heritability using targeted sequencing of GWAS risk regions across multiple ancestries.

bioRxiv · Jul 31, 2015Genetics