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Genome complexity

A retrospective analysis of prenatal genetic results in fetal hydronephrosis

Keqin Jin, Xiayuan Xu, [ ... ], Jianfeng Luo

Distinct chromosome abnormality patterns for differential diagnosis of hepatocellular carcinoma and cholangiocarcinoma

Wantakan Ngamsangiam, Sutheemon Techa-ay, [ ... ], Malinee Thanee

Genetic variability in ADAM17/TACE is associated with sporadic Alzheimer’s disease risk, neuropsychiatric symptoms and cognitive performance on the Rey Auditory Verbal Learning and Clock Drawing Tests

Francesco Bruno, Mirella A. Aceto, [ ... ], Alberto Montesanto

Mapping the temporal transcriptomic signature of a viral pathogen through CAGE and nanopore sequencing

Dóra Tombácz, Balázs Kakuk, [ ... ], Zsolt Boldogkői

Fibroblast growth factor receptor 2 (FGFR2) genetic polymorphisms contribute to fused roots in human molars

Sandra Regina Santos Meyfarth, Flares Baratto-Filho, [ ... ], Erika Calvano Küchler

The Arabidopsis thaliana core splicing factor PORCUPINE/SmE1 requires intron-mediated expression

Varvara Dikaya, Nelson Rojas-Murcia, [ ... ], Markus Schmid

Genomic analysis of bovine respiratory disease resistance in preweaned dairy calves diagnosed by a combination of clinical signs and thoracic ultrasonography

Maria G. Strillacci, Vincenzo Ferrulli, [ ... ], Antonio Boccardo

Trypanosomes lack a canonical EJC but possess an UPF1 dependent NMD-like pathway

Bernardo Papini Gabiatti, Eden Ribeiro Freire, [ ... ], Martin Zoltner

Mis-splicing drives loss of function of p53^E224D point mutation

Ian C. Lock, Nathan H. Leisenring, [ ... ], David G. Kirsch

Impact of β-defensin 103 (DEFB103) copy number variation on bull sperm parameters and post-insemination uterine gene expression

Ozge Sidekli, Edward J. Hollox, Sean Fair, Kieran G. Meade

Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea

Satu Wedenoja, Jarmo Ritari, [ ... ], Kaija-Leena Kolho

Leveraging large language models for data analysis automation

Jacqueline A. Jansen, Artür Manukyan, Nour Al Khoury, Altuna Akalin

PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes

Sophie St-Amour, Laurence Tessier, [ ... ], Karine Tremblay

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