Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the
evolution of multiple methodologies for the evaluation of chromosomal imbalances and …

Disorders of somatic mosaicism (DoSM) are a diverse group of syndromic and non-
syndromic conditions caused by mosaic variants in genes that regulate cell survival and …

1 Ren R. Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia.
Nat Rev Cancer 2005; 5: 172-183. 2 Sloma I, Jiang X, Eaves AC, Eaves CJ. Insights into the …

Background To evaluate the clinical validity of genome-wide oligonucleotide array
comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have …

Background Although mosaic variation has been known to cause disease for decades, high-
throughput sequencing technologies with the analytical sensitivity to consistently detect …

Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells
and have been implicated in developmental disorders and cancer. Such mutations have …

The WHO classification provides the best diagnostic approach to myelodysplastic
syndromes (MDS). However, biologic and analytic limitations have emerged in the criteria …

Postzygotic single-nucleotide mosaicisms (pSNMs) have been extensively studied in tumors
and are known to play critical roles in tumorigenesis. However, the patterns and origin of …

Somatic genome instability is a hallmark of cancer genomes and has been linked to aging
and a variety of other pathologies. Large‐scale cancer genome and exome sequencing …

Detecting somatic mutations that affect cancer driver genes in precancerous cells could
inform early clinical interventions. Two exome sequencing studies have now identified the …