Seiichi Mori

“Of 411 patients with tumors (203 with preexisting tumors and 208 with new tumors diagnosed during follow-up), 134 (32.6%) harbored causative germline P/LP variants in genes such as NF1 (13.1%), TSC2 (5.8%), RB1 (4.6%) and WT1 (3.2%).”

“and 3,848 (3,650 single-nucleotide variants, 198 copy number variations, 3.5%) variants of uncertain significance leaning toward likely pathogenic variants.”

Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing nature.com/articles/s4159…

Surveillance Suggested in Pediatric Cancer Patients With Pathogenic Variants Revealed by NGS genomeweb.com/sequencing/sur…

“We developed a reference panel and a web application (ImputeSV) to impute these SVs from single-nucleotide polymorphism (SNP) data and demonstrated high imputation accuracy at both the individual and cohort levels.”

“Here we identified 171,233 high-quality, genome-wide SVs from 482 haplotype-resolved genome assemblies derived from PacBio HiFi long-read sequencing of 241 individuals.”

Genome-wide associations of structural variants with human traits through imputation from long-read assemblies nature.com/articles/s4158…

“Longitudinal rMDS changes localized to regions enriched for immune-, lectin-, and keratinization-related genes — hallmarks of squamous cell carcinoma — reflecting tumor–peripheral immunity interplay during treatment.”

“outperforming established fragmentomic metrics and copy number alterations while remaining independent of technical confounders.”

Genome-wide variation in cell-free DNA end motif entropy predicts immunotherapy response in head and neck cancer jci.org/articles/view/…

DNA End Motif Sequences Predictive of Immunotherapy Response in Head-and-Neck Cancer genomeweb.com/cancer/dna-end…

Biomarker study of pembrolizumab in patients with advanced rare cancers cell.com/cell-reports-m…

“Chronic lymphocytic leukemia (CLL)-associated deletions at 13q14 were detectable in 1% of individuals aged 65–70 years, suggesting opportunities for incorporating this mosaic mutation into clinical screening and in genetic association studies of CLL.”

“several of which implicated chromosomal fragile sites as a recurrent source of somatic deletions.”

Patterns and drivers of 43,617 mosaic chromosomal alterations in blood nature.com/articles/s4158…

Mosaic Chromosomal Alterations Mapped Out in UK Biobank Blood Samples genomeweb.com/sequencing/mos…