Expanded Carrier Screening for Inherited Genetic Disease Using Exome and Genome Sequencing

N. Belnap,K. Ramsey, A. Abraham, A. Ryan,S. Rangasamy, A. Bonfitto,M. Naymik,M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody,S. Szelinger,V. Narayanan

JOURNAL OF GENETIC COUNSELING（2024）

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Key words

carrier testing,exome sequencing,genetic counseling,genome sequencing,preconception genetic screening,rare disease

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