Yuya Kobayashi from Invitae explains the difficulties scientists face when classifying sequence variants and discusses how innovative approaches help overcome them.

Reasons for Discordant Variant Classifications Discordant variant classifications can occur for a variety of reasons. In hereditary cancer testing, many discrepancies stem from the fact that ACMG/AMP ...

The World Health Organization announced Tuesday it would step up its classification of the new COVID-19 variant JN.1 to a standalone "variant of interest," after tracking the strain's rapid ascent ...

When classification differences existed, we investigated factors that may have contributed to discordance, such as the source of data, date of classification, penetrance, and variant type.

The prevalence of the JN.1 variant of COVID-19 looks to be highest in New York and New Jersey, where it makes up more than half of cases.

The genetic confirmation of a suspected diagnosis of hereditary colorectal cancer is of great importance for the medical care of affected families. However, many of the variants identified in the ...

Race May Factor Into Genetic Screening for Inherited Cardiomyopathy — U.S. study turns up one group with particularly high prevalence of pathogenic variants ...

The Stratus Covid variant has been identified with a distinctive symptom of causing a hoarse voice, setting it apart from ...

Performing RNA sequencing concurrently with DNA sequencing improves detection of novel variants and classification of existing variants, according to a study published online Nov. 4 in JAMA ...

This content includes evidence supporting variant classifications, gene-disease relationships, and various evidence automations, all aligned with ACMG (American College of Medical Genetics and ...

Variant classification and interpretation The ability of all NHS genetics laboratories to reach a consistent and accurate interpretation of a particular variant is paramount given the potential ...