Peroxisome Proliferator-Activated Receptor Gamma Polymorphisms and Coronary Heart Disease by Jean Dallongeville, Carlos Iribarren, Jean Ferrières, Liisa Lyon, Alun Evans, Alan S. Go, Dominique Arveiler, Stephen P. Fortmann, Pierre Ducimetière, Mark A. Hlatky, Philippe Amouyel, Audrey Southwick, Thomas Quertermous, Aline Meirhaeghe

Get full text

“Equity” in genomic health policies: a review of policies in the international arena by Prabhathi Basnayake Ralalage, Prabhathi Basnayake Ralalage, Tala Mitchell, Claire Zammit, Gareth Baynam, Gareth Baynam, Emma Kowal, Libby Masey, Julie McGaughran, Tiffany Boughtwood, Misty Jenkins, Gregory Pratt, Angeline Ferdinand

“…In addition, General and Specific Policy Repositories, Global Consortia in Genomic Medicine, WHO Collaborating Centers in Genomics, Australian Genomics, Public Policy Projects, Global Genomic Medicine Consortium (G2MC), G2MC conference Oct 2023 and National Human Genome Research Institute databases were searched using the inclusion and exclusion criteria. …”
Get full text

Longitudinal genetic studies of cognitive characteristics by R. N. Mustafin, A. V. Kazantseva, R. F. Enikeeva, S. B. Malykh, E. K. Khusnutdinova

“…The content, quantity and arrangement of transposable elements in human genome, which do not affect changes in nucleotide sequences of protein encoding genes, but affect their expression, can be transmitted to the next generation.…”
Get full text

TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin by Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly

Get full text

Evolution of human genes encoding cell surface receptors involved in the regulation of appetite: an analysis based on the phylostratigraphic age and divergence indexes by E. V. Ignatieva, S. A. Lashin, Z. S. Mustafin, N. A. Kolchanov

“…Genes encoding cell surface receptors make up a significant portion of the human genome (more than a thousand genes) and play an important role in gene networks. …”
Get full text

First report of serological, molecular detection, and characterization of human parvovirus B19 infections among sickle cell anaemia patients in Khartoum State, Sudan by Khalid Salman, Sittna Hayder El Nagar, Abdel Rahim M. El Hussein, Mohammed A. El Hussein, Hadi M. Yassine, Hebah A. Al Khatib, Mashael Ali Al- Badr, Ibrahim Farah, Khalid A. Enan

“…The virus targets specific integration sites in the human genome, disrupting cellular division. However, the molecular mechanisms of infection remain poorly understood. …”
Get full text

Stratification system with dual human endogenous retroviruses for predicting immunotherapy efficacy in metastatic clear-cell renal cell carcinoma by Li Xu, Stephane Oudard, Catherine Sautes-Fridman, Xiaoping Su, Gabriel G. Malouf, Virginie Verkarre, Salma Kotti, Fangrong Yan, Yann-Alexandre Vano, Wolf Herve Fridman, Cheng-Ming Sun, Xiaofan Lu, Wenxuan Cheng

“…Background Endogenous retrovirus (ERV) elements are genomic footprints of ancestral retroviral infections within the human genome. While the dysregulation of ERV transcription has been linked to immune cell infiltration in various cancers, its relationship with immune checkpoint inhibitor (ICI) response in solid tumors, particularly metastatic clear-cell renal cell carcinoma (ccRCC), remains inadequately explored.Methods This study analyzed patients with metastatic ccRCC from two prospective clinical trials, encompassing 181 patients receiving nivolumab in the CheckMate trials (−009 to –010 and −025) and 48 patients treated with the ipilimumab-nivolumab combination in the BIONIKK trial. …”
Get full text

Harnessing genomic and bioinformatic data to broaden understanding of leukaemia across continents by Gumelar Gugun, Ulfa Mia Maria, Amukti Danang Prasetyaning, Irham Lalu Muhammad, Yuliani Sapto, Adikusuma Wirawan, Khairi Sabiah, Darmawi Darmawi, Chong Rockie, Ates Ilker, Singh Dilpreet, Chavan Aditya Ashok

“…Methods: This study used genome-wide association study (GWAS) data obtained from the National Human Genome Research Institute (NHGRI) to search for genomic variants associated with leukaemia. …”
Get full text

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

Get full text

YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database by Mengge Wang, Shuhan Duan, Qiuxia Sun, Kaijun Liu, Yan Liu, Zhiyong Wang, Xiangping Li, Lanhai Wei, Yunhui Liu, Shengjie Nie, Kun Zhou, 10K_CPGDP consortium, Yongxin Ma, Huijun Yuan, Bing Liu, Lan Hu, Chao Liu, Guanglin He

Get full text

Interaction study of the effects of environmental exposure and gene polymorphisms of inflammatory and immune-active factors on chronic obstructive pulmonary disease by Rui Wang, Yuanyuan Li, Yuting Jiang, Xiaona Liu, Hongqi Feng, Zhe Jiao, Bingyun Li, Chang Liu, Yuncheng Shen, Fang Chu, Chenpeng Zhu, Dianjun Sun, Wei Zhang

“…Single nucleotide polymorphism (SNP) in the human genome may influence the risk of developing COPD and the response to treatment. …”
Get full text

Hepatitis B Virus-KMT2B Integration Drives Hepatic Oncogenic Processes in a Human Gene-edited Induced Pluripotent Stem Cells-derived ModelSummary by Jun Tsuchiya, Masato Miyoshi, Sei Kakinuma, Fukiko Kawai-Kitahata, Akihide Kamiya, Taro Shimizu, Ayako Sato, Keiya Watakabe, Tomohiro Mochida, Kento Inada, Rion Kamimae, Shun Kaneko, Miyako Murakawa, Sayuri Nitta, Mina Nakagawa, Mamoru Watanabe, Yasuhiro Asahina, Ryuichi Okamoto

“…We aimed to clarify the impact of HBV-KMT2B integration in HCC development using a human genome-edited induced pluripotent stem cell (iPSCs) model. …”
Get full text

Global Patterns of Prostate Cancer Incidence, Aggressiveness, and Mortality in Men of African Descent by Timothy R. Rebbeck, Susan S. Devesa, Bao-Li Chang, Clareann H. Bunker, Iona Cheng, Kathleen Cooney, Rosalind Eeles, Pedro Fernandez, Veda N. Giri, Serigne M. Gueye, Christopher A. Haiman, Brian E. Henderson, Chris F. Heyns, Jennifer J. Hu, Sue Ann Ingles, William Isaacs, Mohamed Jalloh, Esther M. John, Adam S. Kibel, LaCreis R. Kidd, Penelope Layne, Robin J. Leach, Christine Neslund-Dudas, Michael N. Okobia, Elaine A. Ostrander, Jong Y. Park, Alan L. Patrick, Catherine M. Phelan, Camille Ragin, Robin A. Roberts, Benjamin A. Rybicki, Janet L. Stanford, Sara Strom, Ian M. Thompson, John Witte, Jianfeng Xu, Edward Yeboah, Ann W. Hsing, Charnita M. Zeigler-Johnson

Get full text

Characterize Protein Functional Relationships Based on Mrna Expression Profile by Wei Ding, Luquan Wang, Ping Qiu, Jonathan Greene, Marco Hernandez

Get full text

Prediction of C Regulatory Elements Using Statistical Analysis by Ping Qiu, Wei Ding, Ying Jiang, Jonathan Greene, Luquan Wang

Get full text

Middle-age cerebral small vessel disease and cognitive function in later life: a population-based prospective cohort studyResearch in context by Ali Tanweer Siddiquee, Yoon Ho Hwang, Soriul Kim, Sung Jin Shin, Ji Soo Lee, June Christoph Kang, Min-Hee Lee, Hyeon Jin Kim, Seung Ku Lee, Chol Shin

Get full text

STICI: Split-Transformer with integrated convolutions for genotype imputation by Mohammad Erfan Mowlaei, Chong Li, Oveis Jamialahmadi, Raquel Dias, Junjie Chen, Benyamin Jamialahmadi, Timothy Richard Rebbeck, Vincenzo Carnevale, Sudhir Kumar, Xinghua Shi

“…Moreover, STICI shows excellent performance without needing any special presuppositions about the underlying patterns in collections of non-human genomes, pointing to adaptability and applications of STICI to impute missing genotypes in any species.…”
Get full text

Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data by Yuna Lee, Kiejung Park, Insong Koh

“…While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate. …”
Get full text

Alu Mobile Elements: From Junk DNA to Genomic Gems by Sami Dridi

“…Alus, the short interspersed repeated sequences (SINEs), are retrotransposons that litter the human genomes and have long been considered junk DNA. …”
Get full text

Stem Cells in Solid Tumors: Accumulated Evidence and Future Directions by Deepthi Venkatachalapathy, Parveen Doddamani, Aradya V Hirriyannaiah, Prashant Vishwanath, Suma Nataraj, Akila Prashant

Get full text