A scalable, aggregated genotypic-phenotypic database for human disease variation

• Published in: Database : the journal of biological databases and curation Vol. 2019
• Main Authors: Barrett, Ryan, Neben, Cynthia L, Zimmer, Anjali D, Mishne, Gilad, McKennon, Wendy, Zhou, Alicia Y, Ginsberg, Jeremy
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 2019
• Subjects: Adult; Alleles; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Databases, Genetic; Female; Founder Effect; Genetic Variation; Genotype; Humans; Jews - genetics; Male; Middle Aged; Original; Phenotype; Search Engine; User-Computer Interface

Next generation sequencing multi-gene panels have greatly improved the diagnostic yield and cost effectiveness of genetic testing and are rapidly being integrated into the clinic for hereditary cancer risk. With this technology comes a dramatic increase in the volume, type and complexity of data. Th...