[HTML][HTML] Genome sequencing as a first-line diagnostic test for hospitalized infants
KM Bowling, ML Thompson, CR Finnila, SM Hiatt… - Genetics in …, 2022 - Elsevier
Purpose SouthSeq is a translational research study that undertook genome sequencing
(GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted
racial/ethnic minorities and rural, medically underserved areas in the Southeastern United
States, which are historically underrepresented in genomic medicine research. Methods GS
and analysis were performed for 367 infants to detect disease-causal variation concurrent
with standard of care evaluation and testing. Results Definitive diagnostic (DD) or likely …
(GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted
racial/ethnic minorities and rural, medically underserved areas in the Southeastern United
States, which are historically underrepresented in genomic medicine research. Methods GS
and analysis were performed for 367 infants to detect disease-causal variation concurrent
with standard of care evaluation and testing. Results Definitive diagnostic (DD) or likely …
