[HTML][HTML] Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with …
KD Farwell, L Shahmirzadi, D El-Khechen, Z Powis… - Genetics in …, 2015 - Elsevier
Purpose Diagnostic exome sequencing was immediately successful in diagnosing patients
in whom traditional technologies were uninformative. Herein, we provide the results from the
first 500 probands referred to a clinical laboratory for diagnostic exome sequencing.
Methods Family-based exome sequencing included whole-exome sequencing followed by
family inheritance− based model filtering, comprehensive medical review, familial
cosegregation analysis, and analysis of novel genes. Results A positive or likely positive …
in whom traditional technologies were uninformative. Herein, we provide the results from the
first 500 probands referred to a clinical laboratory for diagnostic exome sequencing.
Methods Family-based exome sequencing included whole-exome sequencing followed by
family inheritance− based model filtering, comprehensive medical review, familial
cosegregation analysis, and analysis of novel genes. Results A positive or likely positive …
