Nearly all of the genetic material among cells within an organism is identical. However,
single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants …

Watson‐Crick base‐pair changes, or single‐nucleotide variants (SNV), have long been
known as a source of mutations. However, the extent to which DNA structural variation …

New human mutations are thought to originate in germ cells, thus making a recurrence of the
same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

The identification of mosaicism is important in establishing a disease diagnosis, assessing
recurrence risk, and genetic counseling. Next-generation sequencing (NGS) with deep …

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

Somatic mosaicism has been implicated as a causative mechanism in a number of genetic
and genomic disorders. X-linked acrogigantism (XLAG) syndrome is a recently …

Purpose Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation
of individuals with neurodevelopmental disability and congenital anomalies. CMA may not …

This workshop reviewed the current science to inform and recommend the best evidence-
based approaches on the use of germ cell genotoxicity tests. The workshop questions and …

Nearly every mammalian cell division is accompanied by a mutational event that becomes
fixed in a daughter cell. When carried forward to additional cell progeny, a clone of variant …