Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders...

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Publicado en:	Journal of Genetic Counseling Vol. 34; no. 2; pp. 1 - 8
Autores principales:	Belnap, N., Ramsey, K., Abraham, A., Ryan, A., Rangasamy, S., Bonfitto, A., Naymik, M., Huentelman, M., Strom, S., Perry, D., Subramaniam, A., Grody, W. W., Szelinger, S., Narayanan, V.
Formato:	research tables/charts Journal Article
Publicado:	Wiley-Blackwell Apr2025
Acceso en línea:	Ver este registro en EBSCOhost