Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations

[21] Vrettou C(2015)The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos Reprod. Biomed. Online 31 62-26

[22] Traeger-Synodinos J(2014)A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by non-invasive prenatal diagnosis J Genet Genomics 41 453-9

[23] Jones GM(2015)Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing Prenat Diagn 36 154-15

[24] Cram DS(2014)Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes J Mol Diagn 16 519-95

[25] Stavrou D(2014)Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing Clin Chem 60 251-29

[26] McArthur SJ(2013)Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing Prenat Diagn 33 409-602

[27] Leigh D(2010)Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 589-9

[28] Marshall JT(2008)Spatial smoothing and hot spot detection for CGH data using fused lasso Biostatistics 9 18-82

[29] de Boer KA(2013)24-chromosome copy number analysis: a comparison of available technologies Fertil Steril 100 595-62

[30] Jansen RP(2015)The performance of whole genome amplification methods and next-generation sequencing for pre-implantation genetic diagnosis of chromosomal abnormalities J. Genet. Genomics 42 151-undefined

[21] Vrettou C(2015)The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos Reprod. Biomed. Online 31 62-26

[22] Traeger-Synodinos J(2014)A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by non-invasive prenatal diagnosis J Genet Genomics 41 453-9

[23] Jones GM(2015)Detection and quantitation of chromosomal mosaicism in human blastocysts using copy number variation sequencing Prenat Diagn 36 154-15

[24] Cram DS(2014)Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes J Mol Diagn 16 519-95

[25] Stavrou D(2014)Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing Clin Chem 60 251-29

[26] McArthur SJ(2013)Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing Prenat Diagn 33 409-602

[27] Leigh D(2010)Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 589-9

[28] Marshall JT(2008)Spatial smoothing and hot spot detection for CGH data using fused lasso Biostatistics 9 18-82

[29] de Boer KA(2013)24-chromosome copy number analysis: a comparison of available technologies Fertil Steril 100 595-62

[30] Jansen RP(2015)The performance of whole genome amplification methods and next-generation sequencing for pre-implantation genetic diagnosis of chromosomal abnormalities J. Genet. Genomics 42 151-undefined