Neanderthal DNA has subtle but significant impact on human traits Since 2010 scientists have known that people of Eurasian origin have inherited anywhere from 1 to 4 percent of their DNA from Neanderthals.  In a study published in Science, Tony Capra and Corinne Simonti used phenome-wide association studies to study the impact of Neanderthal alleles on human phenotypes in the eMERGE Network.

AMIA 2015 NLP Application Tutorial Below are the slides from the AMIA 2015 NLP Tutorial.     Josh Denny:  NLP applied to EHR phenotyping and medical education:  josh amia NLP tutorial 2015.pdf   Hua Xu:  Introduction to pipeline NLP and Clinical Language Annotation, Modeling, and Processing Toolkit (CLAMP) 

Download the mapping between ICD-9 codes and PheWAS codes, version 1.2 at https://phewascatalog.org/phecodes .  

The KnowledgeMap Concept Indexer (KMCI) is the underlying natural language processing engine used in the KnowledgeMap and Learning Portfolio website, and has been used for many clinical and genomic research studies.  It identifies biomedical concepts, mapped to Unified Medical Language System concepts, from natural language documents and clinical notes.

Nature Biotech featured PheWAS paper as one of the top computational biology innovations in 2010.