This study evaluates five dataset documentation approaches for health datasets and finds none are widely used or fully suitable, recommending a new standard with guidelines and tools.

npj Digital Medicine · May 9, 2026Peer-reviewedBioinformatics

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, Jacques Samuel Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J. Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael A. Gargano, Tudor Groza, , Peter N. Robinson

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Nature Biotechnology · Jun 1, 2022Peer-reviewedGenetic & Genomic Medicine

Neptune: An environment for the delivery of genomic medicine

Eric Venner, Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Tian Xia, Mullai Murugan, Michelle L. Cohen, Christie Kovar, Wei‐Qi Wei, Wendy K. Chung, Chunhua Weng, , Andrea L. Hartzler

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

Genetics in Medicine · Jul 13, 2021Peer-reviewedBioinformatics

Semantic Integration of Clinical Laboratory Tests from Electronic Health Records for Deep Phenotyping and Biomarker Discovery

Xingmin Zhang, Amy Yates, Nicole Vasilevsky, Jean-Philippe F. Gourdine, Tiffany J. Callahan, Leigh Carmody, Daniel Daniš, Marcin P. Joachimiak, Vida Ravanmehr, Emily Pfaff, James P Champion, Kimberly Robasky, Hao Xu, Karamarie Fecho, Nephi Walton, , Peter N. Robinson

The paper semantically integrates LOINC-encoded laboratory data with the Human Phenotype Ontology to identify asthma biomarkers from EHR data.

npj Digital Medicine · May 2, 2019Peer-reviewedBioinformatics