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

1533-4406

10.1056/NEJMoa1516767 doi


Exome
Genetic Diseases, Inborn--genetics
Genetic Variation
Genotyping Techniques
High-Throughput Nucleotide Sequencing
Humans
Phenotype
Retrospective Studies
Sequence Analysis, DNA--methods