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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.

BMC medical genomics | 2019

Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay.

Pubmed ID: 31699113 RIS Download

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MENDEL (tool)

RRID:SCR_009288

Software application for genetic analysis of human pedigree data under models involving a small number of loci. MENDEL is useful for segregation analysis, linkage calculations, genetic counseling, allele frequency estimation, and related kinds of problems. (entry from Genetic Analysis Software)

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