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. …”
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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

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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

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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

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

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

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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

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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.…”
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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. …”
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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. …”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

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Reply by Denis Vincent, MD, PhD, Ludovic Martin, MD, PhD, Sven Cichon, PhD, Christian Drouet, PharmD, PhD, Arije Ghannam, MD PhD

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Accelerating next generation sequencing data analysis: an evaluation of optimized best practices for Genome Analysis Toolkit algorithms by Karl R. Franke, Erin L. Crowgey

“…To enhance the current understanding of software and hardware used to compute large scale human genomic datasets (NGS), the performance and accuracy of optimized versions of GATK algorithms, including Parabricks and Sentieon, were compared to the results of the original application (GATK V4.1.0, Intel x86 CPUs). …”
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The large-scale whole-genome sequencing era expedited medical discovery and clinical translation by Qingxin Yang, Shuhan Duan, Yuguo Huang, Chao Liu, Mengge Wang, Guanglin He

“…Here, a concise overview of the recent revolution in human genomic research is provided, emphasizing how these projects, in the era of large-scale whole-genome sequencing, have advanced genomic science, genomic medicine, and evolutionary genomics, as well as their clinical translational applications in disease prediction, cancer, drug response, and rare disease diagnosis.…”
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Super-enhancers and efficacy of triptolide in small cell carcinoma of the ovary hypercalcemic type by Jessica D. Lang, William Selleck, Shawn Striker, Nicolle A. Hipschman, Rochelle Kofman, Anthony N. Karnezis, Felix K.F. Kommoss, Friedrich Kommoss, Jae Rim Wendt, Salvatore J. Facista, William P.D. Hendricks, Krystal A. Orlando, Patrick Pirrotte, Elizabeth A. Raupach, Victoria L. Zismann, Yemin Wang, David G. Huntsman, Bernard E. Weissman, Jeffrey M. Trent

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The chemistry of gut microbiome in health and diseases by Agnes Wei Yin Lau, Loh Teng-Hern Tan, Nurul-Syakima Ab Mutalib, Sunny Hei Wong, Vengadesh Letchumanan, Learn-Han Lee

“… There are trillions of microbes residing in our body, with their collective genomes much more than human genomes. They have been living in a close relationship with us and play a role in various biological functions. …”
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Genotype-phenotype insights of pediatric dilated cardiomyopathy by Ying Dai, Yan Wang, Youfei Fan, Bo Han

“…Research has shown that DCM exhibits notable genetic heterogeneity, with over 100 DCM-related genes identified to date, primarily involving functions such as calcium handling, the cytoskeleton, and ion channels. As human genomic variations are linked to phenotypes, DCM phenotypes are influenced by numerous genetic variations across the entire genome. …”
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A Survey of SNP Data Analysis by Xiaojun Ding, Xuan Guo

“…As such, differences in human genomes are very worthy of study. Single-Nucleotide Polymorphisms (SNPs) are the simplest form and most common source of genetic polymorphism. …”
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Directions for improving the legal regulation of forensic DNA analysis in Ukraine in the context of integration into the European Union by R. L. Stepaniuk, V. V. Kikinchuk

“…Together with the adoption of the Law of Ukraine “On the State Registration of Human Genomic Information”, it is necessary to introduce changes and additions to the Code of Criminal Procedure of Ukraine in order to harmonize the provisions of these normative legal acts, which primarily concern the improvement of the procedure for obtaining samples for molecular genetic research. …”
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Holarctic phylogeographic structure of Eurasian wigeon (Mareca penelope) by I. V. Kulikova, Y. N. Zhuravlev, I. G. Korobitsyn, G. A. Nemkova, K. G. McCracken, J. L. Peters

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