Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment

Eric Q Konnick; Colin C Pritchard

doi:10.1186/s13073-016-0350-8

Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment

Genome Med. 2016 Oct 5;8(1):100. doi: 10.1186/s13073-016-0350-8.

Authors

Eric Q Konnick¹, Colin C Pritchard²

Affiliations

¹ Department of Laboratory Medicine, University of Washington Medical Center, Box 357110, 1959 NE Pacific St, Seattle, WA, 98195-7110, USA.
² Department of Laboratory Medicine, University of Washington Medical Center, Box 357110, 1959 NE Pacific St, Seattle, WA, 98195-7110, USA. cpritch@uw.edu.

Abstract

Advances in genetic analysis have revealed new complexities in the interpretation of genetic variants. Correct assessment of a genetic variant relies on the clinical context and knowledge of the underlying biology. We outline four scenarios encountered in genetic testing where careful consideration of the origin of genetic variation is required for variant interpretation.

MeSH terms

Genetic Predisposition to Disease*
Genetic Testing / ethics*
Genetic Variation*
Genome, Human
Genotype
Germ-Line Mutation*
High-Throughput Nucleotide Sequencing
Humans
Inheritance Patterns
Mosaicism
Neoplasms / diagnosis
Neoplasms / genetics*
Neoplasms / pathology
Phenotype
Practice Guidelines as Topic
Sequence Analysis, DNA