ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica
Previous issue | Volume 22 | ESPEYB25

Yearbook of Paediatric Endocrinology 2025

14. The Year in Science and Medicine

Genomics – Long-Read Sequencing

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Metabolomics, Steroidomics

ey0022.14-5 | Genomics – Long-Read Sequencing

14.5. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

ey0022.14-6 | Genomics – Long-Read Sequencing

14.6. Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development

ey0022.14-7 | Genomics – Long-Read Sequencing

14.7. Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort

ey0022.14-8 | Genomics – Long-Read Sequencing

14.8. Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

ey0022.14-9 | Genomics – Long-Read Sequencing

14.9. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

ey0022.14-10 | Genomics – Long-Read Sequencing

14.10. Toward clinical long-read genome sequencing for rare diseases

ey0022.14-11 | Genomics – Long-Read Sequencing

14.11. Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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