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Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing

31 May 2019

Abstract excerpt

STUDY QUESTION: Can reduced representation genome sequencing offer an alternative to single nucleotide polymorphism (SNP) arrays as a generic and genome-wide approach for comprehensive preimplantation genetic testing for monogenic disorders (PGT-M), aneuploidy (PGT-A) and structural rearrangements (PGT-SR) in human embryo biopsy samples? SUMMARY ANSWER: Reduced representation genome sequencing, with OnePGT,...

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Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31348829
DOI: 10.1093/humrep/dez106

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