Results 41 to 50 of about 4,860 (216)

Understanding Disease Susceptibility through Population Genomics [PDF]

Genomics & Informatics, 2012
Genetic epidemiology studies have established that the natural variation of gene expression profiles is heritable and has genetic bases. A number of proximal and remote DNA variations, known as expression quantitative trait loci (eQTLs), that are ...
Seonggyun Han, Junnam Lee, Sangsoo Kim
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Ultra-accurate microbial amplicon sequencing with synthetic long reads

Microbiome, 2021
Background Out of the many pathogenic bacterial species that are known, only a fraction are readily identifiable directly from a complex microbial community using standard next generation DNA sequencing.
Benjamin J. Callahan, Dmitry Grinevich, Siddhartha Thakur, Michael A. Balamotis, Tuval Ben Yehezkel   +4 more
doaj   +1 more source

Effect of competing mortality risks on predictive performance of the QFracture-2012 risk prediction tool for major osteoporotic fracture and hip fracture: external validation cohort study in a UK primary care population

BMJ Medicine, 2022
Objective To externally evaluate the QFracture-2012 risk prediction tool for predicting the risk of major osteoporotic fracture and hip fracture.Design External validation cohort study.Setting UK primary care population. Linked general practice (Clinical
Bruce Guthrie, Peter Donnan, Megan McMinn, Daniel R Morales, Shona J Livingstone, Chima Eke   +5 more
doaj   +1 more source

Genomic selection in livestock populations

Genetics Research, 2010
SummaryMost traits of economic importance in livestock are either quantitative or complex. Despite considerable efforts, there has been only limited success in identifying the polymorphisms that cause variation in these traits. Nevertheless, selection based on estimated breeding values (BVs), calculated from data on phenotypic performance and pedigree ...
Goddard, Michael E., Hayes, Ben J., Meuwissen, Theo H. E.   +2 more
openaire   +5 more sources

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

Single-cell multimodal profiling of pan-cancer cell lines uncovers gene regulatory principles underlying intrinsic cell states and environmental features

Nature Communications
Cancer arises from genetic and epigenetic alterations that reshape chromatin, transcriptional regulation, and malignant cell states. To chart cancer-intrinsic regulatory programs, we build a pan-cancer single-cell atlas of 60 cancer cell lines spanning ...
Zihan Xu, Aileen Ugurbil, Joshua Kwan, Chloe Schaefer, Abdulraouf Abdulraouf, Ziyu Lu, Erting Tang, Wei Zhou, Junyue Cao   +8 more
doaj   +1 more source

A genome catalog of the early-life human skin microbiome

Genome Biology, 2023
Background Metagenome-assembled genomes have greatly expanded the reference genomes for skin microbiome. However, the current reference genomes are largely based on samples from adults in North America and lack representation from infants and individuals
Zeyang Shen, Lukian Robert, Milan Stolpman, You Che, Katrina J. Allen, Richard Saffery, Audrey Walsh, Angela Young, Jana Eckert, Clay Deming, Qiong Chen, Sean Conlan, Karen Laky, Jenny Min Li, Lindsay Chatman, Sara Saheb Kashaf, NISC Comparative Sequencing Program, VITALITY team, Heidi H. Kong, Pamela A. Frischmeyer-Guerrerio, Kirsten P. Perrett, Julia A. Segre   +21 more
doaj   +1 more source

Effect of competing mortality risks on predictive performance of the QRISK3 cardiovascular risk prediction tool in older people and those with comorbidity: external validation population cohort study

The Lancet. Healthy Longevity, 2021
Summary: Background: Primary prevention of cardiovascular disease (CVD) is guided by risk-prediction tools, but these rarely account for the risk of dying from other conditions (ie, competing mortality risk).
Shona Livingstone, MSc, Daniel R Morales, PhD, Peter T Donnan, ProfPhD, Katherine Payne, ProfPhD, Alexander J Thompson, PhD, Ji-Hee Youn, PhD, Bruce Guthrie, ProfPhD   +6 more
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source