Results 221 to 230 of about 709,139 (287)

Preprint: Benchmarking large language models for ACMG/AMP variant interpretation and variant calling

Manuel Corpas
core   +1 more source

Benchmarking long-read variant calling in diploid and polyploid genomes: insights from human and plants. [PDF]

BMC Genomics
Fukasawa Y.
europepmc   +1 more source

Health Care Use Among Patients Presenting to Emergency Department for Gout Flares in Ontario, Canada: A Population‐Based Health Systems Analysis

Arthritis Care &Research, EarlyView.
Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.
Timothy S. H. Kwok, Samantha Morais, William K. Silverstein, Clare L. Atzema, Gregory Choy, Priyanka Chandratre, Ping Li, Jessica Widdifield   +7 more
wiley   +1 more source

Evaluation of reference sample type for somatic variant calling in myeloid cancers. [PDF]

Ann Hematol
Jakobsen MZ, Torp EA, Issa II, Høholt H, Sønderkaer M, Madsen J, Christensen LM, Jørgensen MP, Nøhr AK, Brøndum RF, Kristensen DT, Dybkaer K, Severinsen MT, Due H.   +13 more
europepmc   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source

Comprehensive assessment of whole-genome sequencing-based variant calling pipelines in monozygotic twins. [PDF]

Brief Bioinform
Tan C, Sun W, Yu J, Fu J, Ming C, Liu X.
europepmc   +1 more source

Employment Trajectories of Patients With Systemic Lupus Erythematosus and Factors Driving Transitions Between States

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) significantly impacts employment capacity. This study aimed to investigate the impact of burden of disease activity, damage, and treatment on employment outcomes and transitions in patients with SLE. Methods Using data from a single center, we analyzed employment transitions, adjusted mean disease activity ...
Javier Mencia‐Ledo, Zahi Touma, Laura Whittall Garcia, Dafna D. Gladman, Behdin Nowrouzi‐Kia   +4 more
wiley   +1 more source

ConsensuSV-ONT - A modern method for accurate structural variant calling. [PDF]

Sci Rep
Pietryga A, Chiliński M, Gadakh S, Plewczynski D.   +3 more
europepmc   +1 more source

Individuals With Multijoint Osteoarthritis Demonstrate Larger Longitudinal Declines in Frailty: Data From the Canadian Longitudinal Study on Aging

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to test the hypothesis that multijoint osteoarthritis would modify the relation between time and frailty progression, in which more affected joints would lead to larger declines over six years compared to those without osteoarthritis using data from the Canadian Longitudinal Study on Aging.
Carson Halliwell, Rebecca Moyer, Myles W. O'Brien   +2 more
wiley   +1 more source

Manual validation finds ultra-long-read sequencing best enables faithful, population-level structural variant calling in Drosophila melanogaster euchromatin with nanopore. [PDF]

G3 (Bethesda)
Hemker JA, Gellert HR, Smiley-Rhodes JA, Kim BY, Petrov DA.   +4 more
europepmc   +1 more source