December 8, 2025BloodOpen Access

Repertoire of driver events in coding and non-coding regions identified by whole-genome sequencing of myeloid neoplasms

View Full Paper

Ask AI

Bookmark

Authors

Discussion

Large-scale analysis revealed over 1 million mutations in myeloid neoplasms, indicating diverse mutational signatures and structural variations.

Identification of over 1,159,000 single nucleotide variants and nearly 77,000 small insertions/deletions in acute myeloid leukemia.
Mutation analysis showed high false positivity control, achieving 95% true-positive rate for known drivers in 903 myeloid neoplasms.
Study utilized deep whole-genome sequencing along with RNA sequencing to identify novel candidate driver genes and non-coding RNA mutations.
Novel mutational signatures and structural variations highlighted the complexity in the pathogenesis of myeloid neoplasms.

Ochi et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark

December 8, 2025BloodOpen Access

View Full Paper

Ask AI

Bookmark

Authors

Large-scale analysis revealed over 1 million mutations in myeloid neoplasms, indicating diverse mutational signatures and structural variations.

Identification of over 1,159,000 single nucleotide variants and nearly 77,000 small insertions/deletions in acute myeloid leukemia.
Mutation analysis showed high false positivity control, achieving 95% true-positive rate for known drivers in 903 myeloid neoplasms.
Study utilized deep whole-genome sequencing along with RNA sequencing to identify novel candidate driver genes and non-coding RNA mutations.
Novel mutational signatures and structural variations highlighted the complexity in the pathogenesis of myeloid neoplasms.

Ochi et al. (2025) studied this question.

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark