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Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.
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Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.
J Assist Reprod Genet. 2017 Aug;34(8):975-981. doi: 10.1007/s10815-017-0924-4. Epub 2017 Jun 2.
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Mosaic autosomal aneuploidies are detectable from single-cell RNAseq data.
BMC Genomics. 2017 Nov 25;18(1):904. doi: 10.1186/s12864-017-4253-x.
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Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing.
Fertil Steril. 2017 May;107(5):1085-1091. doi: 10.1016/j.fertnstert.2017.03.024. Epub 2017 Apr 6.
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Mosaicism in Human Health and Disease.
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Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts.
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Distribution patterns of segmental aneuploidies in human blastocysts identified by next-generation sequencing.
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2
Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue.
Am J Hum Genet. 2016 Mar 3;98(3):571-578. doi: 10.1016/j.ajhg.2016.02.003.
3
Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Genet Med. 2016 Sep;18(9):940-8. doi: 10.1038/gim.2015.199. Epub 2016 Jan 28.
4
A global reference for human genetic variation.
Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
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Tools and best practices for data processing in allelic expression analysis.
Genome Biol. 2015 Sep 17;16(1):195. doi: 10.1186/s13059-015-0762-6.
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Characterization of large structural genetic mosaicism in human autosomes.
Am J Hum Genet. 2015 Mar 5;96(3):487-97. doi: 10.1016/j.ajhg.2015.01.011.
10
Single cell sequencing reveals low levels of aneuploidy across mammalian tissues.
Proc Natl Acad Sci U S A. 2014 Sep 16;111(37):13409-14. doi: 10.1073/pnas.1415287111. Epub 2014 Sep 2.

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