ID Genomics (United States)

Genetic etiology associated with post‑transplant outcomes in a retrospective cohort of pediatric kidney transplant recipients based on genomics analysis

To determine whether genetic etiology, as determined by whole-exome sequencing (WES) and copy-number variant (CNV) analysis, is associated with graft survival and early injury profiles in pediatric kidney transplant recipients. We conducted a single-center, retrospective cohort s...

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

ABSTRACT BACKGROUND The genetic complexity of hemoglobin genes, characterized by high GC content and homologous sequences, poses significant challenges for detecting hemoglobin variants in clinical settings. METHODS A long-read indexed PCR method utilizing the novel CycloneSEQ na...

Cancer of unknown primary: the evolution of tissue of origin identification in the artificial intelligence era

Cancer of Unknown Primary (CUP) presents substantial diagnostic and therapeutic challenges owing to its heterogeneous nature and the absence of an identifiable primary tumor site. This review provides a structured search of the pathogenesis, epidemiological characteristics, and l...

Unravelling the genetic structure and genetic relationships of indigenous Greek sheep breeds using SNP markers

Abstract Background Indigenous sheep of Greece represent important genetic resources shaped by long-term adaptation to diverse environments. However, many populations face demographic decline, genetic erosion, and their genomic diversity remains inadequately characterized. This s...