The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos

Fast and accurate short read alignment with Burrows–Wheeler transform

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Life Sciences, Bioinformatics, Biology +12

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

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Genome Analyses of Single Human Oocytes

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Life Sciences, Genetics, Molecular Genetics +13

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

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Life Sciences, Genetics, Molecular Genetics +17

Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos

Francesco Fiorentino, Sara Bono, L. Spizzichino et al. · Fertility and Sterility · 2014 · 247 citations

Life Sciences, Genetics, Molecular Genetics +14