title: Germline, hematopoietic, mosaic, and somatic variation: interplay between inherited and acquired genetic alterations in disease assessment.
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.
authors.affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Box 357110, 1959 NE Pacific St, Seattle, WA, 98195-7110, USA.
authors.forename: Eric Q
authors.initials: EQ
authors.lastname: Konnick
authors.affiliation: Department of Laboratory Medicine, University of Washington Medical Center, Box 357110, 1959 NE Pacific St, Seattle, WA, 98195-7110, USA. cpritch@uw.edu.
authors.forename: Colin C
authors.initials: CC
authors.lastname: Pritchard
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics*; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D018095:Germ-Line Mutation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040582:Inheritance Patterns; D009030:Mosaicism; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017410:Practice Guidelines as Topic; D017422:Sequence Analysis, DNA