Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Genome Medicine; 16 March 2023
Pubmed Abstract

Continue Reading


Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers & Stephen F. Kingsmore

Archived DBS appear to be a suitable sample type for WGS in population genomic studies.

npj Genomic Medicine; 14 February, 2023
Pubmed Abstract
Download PDF