Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism

Towards Improving Embryo Prioritization: Parallel Next Generation Sequencing of DNA and RNA from a Single Trophectoderm Biopsy

(2019) Noga Fuchs Weizman et al.   Scientific Reports

Single-cell sequencing of primate preimplantation embryos reveals chromosome elimination via cellular fragmentation and blastomere exclusion

(2019) Brittany L. Daughtry et al.   GENOME RESEARCH

Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development

(2019) Imma Sanchez-Ribas et al.   FERTILITY AND STERILITY

Hypo-osmotic-like stress underlies general cellular defects of aneuploidy

(2019) Hung-Ji Tsai et al.   NATURE

RNA-seq as a tool for evaluating human embryo competence

(2019) Abigail F. Groff et al.   GENOME RESEARCH

Reconstituting the transcriptome and DNA methylome landscapes of human implantation

(2019) Fan Zhou et al.   NATURE

PGDIS Position Statement on the Transfer of Mosaic Embryos 2019

(2019) D.S. Cram et al.   REPRODUCTIVE BIOMEDICINE ONLINE

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

(2019) Masoud Zamani Esteki et al.   NATURE MEDICINE

First PGT-A using human in vivo blastocysts recovered by uterine lavage: comparison with matched IVF embryo controls†

(2019) Santiago Munné et al.   HUMAN REPRODUCTION

A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21

(2019) Jonathan M. Chernus et al.   PLoS Genetics

Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data

(2018) Jean Fan et al.   GENOME RESEARCH

Bias, robustness and scalability in single-cell differential expression analysis

(2018) Charlotte Soneson et al.   NATURE METHODS

Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome

(2018) Jérôme Toutain et al.   PLoS One

Parental age and gene expression profiles in individual human blastocysts

(2018) Kiyotaka Kawai et al.   Scientific Reports

Correction: Integrated analysis of single-cell embryo data yields a unified transcriptome signature for the human pre-implantation epiblast (doi: 10.1242/dev.158501)

(2018) Giuliano G. Stirparo et al.   DEVELOPMENT

The pros and cons of preimplantation genetic testing for aneuploidy: clinical and laboratory perspectives

(2018) Zev Rosenwaks et al.   FERTILITY AND STERILITY

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Human blastocysts of normal and abnormal karyotypes display distinct transcriptome profiles

(2018) Frederick Licciardi et al.   Scientific Reports

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

(2018) Ngoc Minh Phuong Nguyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos

(2017) Olga Tšuiko et al.   HUMAN REPRODUCTION

Are blastocyst aneuploidy rates different between fertile and infertile populations?

(2017) Jonathan D. Kort et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Single-cell DNA methylome sequencing of human preimplantation embryos

(2017) Ping Zhu et al.   NATURE GENETICS

SCnorm: robust normalization of single-cell RNA-seq data

(2017) Rhonda Bacher et al.   NATURE METHODS

A single trophectoderm biopsy at blastocyst stage is mathematically unable to determine embryo ploidy accurately enough for clinical use

(2017) Norbert Gleicher et al.   Reproductive Biology and Endocrinology

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm

(2017) Rajiv C. McCoy   TRENDS IN GENETICS

A practical guide to single-cell RNA-sequencing for biomedical research and clinical applications

(2017) Ashraful Haque et al.   Genome Medicine

Causes and consequences of chromosome segregation error in preimplantation embryos

(2017) Cayetana Vázquez-Diez et al.   REPRODUCTION

Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro

(2017) Christian S. Ottolini et al.   Scientific Reports

Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos

(2016) Sophie Petropoulos et al.   CELL

Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

(2016) Aspasia Destouni et al.   GENOME RESEARCH

Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities

(2016) Antonio Capalbo et al.   HUMAN REPRODUCTION

Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential

(2016) Helen Bolton et al.   Nature Communications

Chromosomal instability in mammalian pre-implantation embryos: potential causes, detection methods, and clinical consequences

(2015) Brittany L. Daughtry et al.   CELL AND TISSUE RESEARCH

Fitting Linear Mixed-Effects Models Usinglme4

(2015) Douglas Bates et al.   Journal of Statistical Software

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

(2015) Christian S Ottolini et al.   NATURE GENETICS

G&T-seq: parallel sequencing of single-cell genomes and transcriptomes

(2015) Iain C Macaulay et al.   NATURE METHODS

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

(2015) Ermanno Greco et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos

(2015) R. C. McCoy et al.   SCIENCE

Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis

(2015) Maria Vera-Rodriguez et al.   Nature Communications

Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development

(2015) Rajiv C. McCoy et al.   PLoS Genetics

The Molecular Signatures Database Hallmark Gene Set Collection

(2015) Arthur Liberzon et al.   Cell Systems

Unique features of the transcriptional response to model aneuploidy in human cells

(2014) Milena Dürrbaum et al.   BMC GENOMICS

The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells

(2014) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Unveiling the critical role of REX1 in the regulation of human stem cell pluripotency

(2013) Mi-Young Son et al.   STEM CELLS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Transcriptional consequences of aneuploidy

(2012) J. M. Sheltzer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE