Detection of Structural Rearrangements in Embryos

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Long-read DNA sequencing enables the detection of balanced chromosomal rearrangements in embryos. Novelty: ClaimNovelty.METHODOLOGICAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Svetlana Madjunkova; Yogi Sundaravadanam; Ran Antes; Rina Abramov; Siwei Chen; Yin Yin; Philip C. Zuzarte; Sergey I. Moskovtsev; Lars Jorgensen; Ari Baratz; Jared T. Simpson; Clifford Librach

doi:10.1056/nejmc1913370

June 17, 2020New England Journal of Medicine

Detection of Structural Rearrangements in Embryos

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Balanced Translocations in Embryos Balanced chromosomal rearrangements are associated with infertility and recurrent miscarriage but are difficult to detect. In this study, long-read DNA sequencing...

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Madjunkova et al. (2020) studied this question.

synapsesocial.com/papers/6aaa3b4d8881c6e7ed333094 https://doi.org/10.1056/nejmc1913370

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Detection of Structural Rearrangements in Embryos

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Detection of Structural Rearrangements in Embryos

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