Posey, Jennifer E Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. [electronic resource] - The New England journal of medicine 01 2017 - 21-31 p. digital Publication Type: Journal Article ISSN: 1533-4406 Standard No.: 10.1056/NEJMoa1516767 doi Subjects--Topical Terms: ExomeGenetic Diseases, Inborn--geneticsGenetic VariationGenotyping TechniquesHigh-Throughput Nucleotide SequencingHumansPhenotypeRetrospective StudiesSequence Analysis, DNA--methods