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Aneuploidy

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Daniel S. Marchuk, Kristy Crooks, [ ... ], Jonathan S. Berg

Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination

Jianfeng Yang, Xiaofan Ding, Weidong Zhu

An investigation of genotype-phenotype association in a festulolium forage grass population containing genome-spanning Festuca pratensis chromosome segments in a Lolium perenne background

John Harper, Dagmara Gasior, [ ... ], Ian Armstead

Development of a new 7BS.7HL winter wheat-winter barley Robertsonian translocation line conferring increased salt tolerance and (1,3;1,4)-β-D-glucan content

Edina Türkösi, Eva Darko, [ ... ], András Cseh

Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure

Javier del Rey, Francisco Vidal, [ ... ], Joaquima Navarro

Variation sites at the HLA-G 3’ untranslated region confer differential susceptibility to HIV/HPV co-infection and aneuploidy in cervical cell

Fernanda Silva Medeiros, Albert Eduardo Silva Martins, [ ... ], Norma Lucena-Silva

Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

Alberto Liñán, Barbara Lawrenz, [ ... ], Human M. Fatemi

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

Anna Keravnou, Marios Ioannides, [ ... ], Philippos C. Patsalis

Evaluation of a novel non-invasive preimplantation genetic screening approach

Valeriy Kuznyetsov, Svetlana Madjunkova, [ ... ], Clifford Librach

Transcriptome analysis of genetically matched human induced pluripotent stem cells disomic or trisomic for chromosome 21

Patrick K. Gonzales, Christine M. Roberts, [ ... ], Christopher D. Link

AMYCNE: Confident copy number assessment using whole genome sequencing data

Jesper Eisfeldt, Daniel Nilsson, Johanna C. Andersson-Assarsson, Anna Lindstrand

DNA aneuploidy relationship with patient age and tobacco smoke in OPMDs/OSCCs

Patrizio Castagnola, Sergio Gandolfo, [ ... ], Monica Pentenero

RNA-sequencing-based transcriptome and biochemical analyses of steroidal saponin pathway in a complete set of Allium fistulosum—A. cepa monosomic addition lines

Mostafa Abdelrahman, Magdi El-Sayed, [ ... ], Masayoshi Shigyo

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