Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

DAVID: a web server for functional enrichment analysis and functional annotation of gene lists (2021 update)

(2022) Brad T Sherman et al.   NUCLEIC ACIDS RESEARCH

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

(2021) Francesca Forzano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

DNMT1: A Key Drug Target in Triple-Negative Breast Cancer

(2020) Keng Wong Kah   SEMINARS IN CANCER BIOLOGY

Sequencing and imputation in GWAS: Cost‐effective strategies to increase power and genomic coverage across diverse populations

(2020) Corbin Quick et al.   GENETIC EPIDEMIOLOGY

Association of Histological and Clinical Chorioamnionitis With Neonatal Sepsis Among Preterm Infants: A Systematic Review, Meta-Analysis, and Meta-Regression

(2020) Eduardo Villamor-Martinez et al.   Frontiers in Immunology

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Weighted Gene Co-expression Network Analysis of Key Biomarkers Associated With Bronchopulmonary Dysplasia

(2020) Yao Cai et al.   Frontiers in Genetics

Genomic and molecular characterization of preterm birth

(2019) Theo A. Knijnenburg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Benefits and limitations of genome-wide association studies

(2019) Vivian Tam et al.   NATURE REVIEWS GENETICS

Breast cancer, placenta and pregnancy

(2019) Karolin Froehlich et al.   EUROPEAN JOURNAL OF CANCER

Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy

(2019) Lei Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global incidence of bronchopulmonary dysplasia among extremely preterm infants: a systematic literature review

(2019) Csaba Siffel et al.   Journal of Maternal-Fetal & Neonatal Medicine

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration

(2019) Xueping Liu et al.   Nature Communications

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

(2019) Julian R. Homburger et al.   Genome Medicine

Recent advances in the genetics of preterm birth

(2019) Megan Wadon et al.   ANNALS OF HUMAN GENETICS

Spontaneous preterm birth: advances toward the discovery of genetic predisposition

(2018) Jerome F. Strauss et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Genetic studies of gestational duration and preterm birth

(2018) Ge Zhang et al.   BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY

Meta-Analysis of Maternal and Fetal Transcriptomic Data Elucidates the Role of Adaptive and Innate Immunity in Preterm Birth

(2018) Bianca Vora et al.   Frontiers in Immunology

Very low depth whole genome sequencing in complex trait association studies

(2018) Arthur Gilly et al.   BIOINFORMATICS

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

(2018) Siyang Liu et al.   CELL

The regulation of oxytocin and oxytocin receptor in human placenta according to gestational age

(2017) Seung-Chul Kim et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth

(2017) Ge Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

FANTOM5 CAGE profiles of human and mouse samples

(2017) Shuhei Noguchi et al.   Scientific Data

Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update

(2016) Ishfaq A. Sheikh et al.   BMC GENOMICS

Preimplantation genetic screening (PGS) is an excellent tool, but not perfect: a guide to counseling patients considering PGS

(2016) Paul R. Brezina et al.   FERTILITY AND STERILITY

Differential expression of the epigenetic methylation-related protein DNMT1 by breast cancer molecular subtype and stromal histology

(2016) Eunah Shin et al.   Journal of Translational Medicine

Rapid genotype imputation from sequence without reference panels

(2016) Robert W Davies et al.   NATURE GENETICS

Post-transcriptional down regulation of ICAM-1 in feto-placental endothelium in GDM

(2016) Francisca Isidora Díaz-Pérez et al.   Cell Adhesion & Migration

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

Gestational Age at Birth and ‘Body-Mind’ Health at 5 Years of Age: A Population Based Cohort Study

(2016) Frances M. Cronin et al.   PLoS One

FermiKit: assembly-based variant calling for Illumina resequencing data

(2015) Heng Li   BIOINFORMATICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

The PsychENCODE project

(2015) Schahram Akbarian et al.   NATURE NEUROSCIENCE

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

ANGSD: Analysis of Next Generation Sequencing Data

(2014) Thorfinn Sand Korneliussen et al.   BMC BIOINFORMATICS

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Intercellular adhesion molecule-1 expression in massive chronic intervillositis: Implications for the invasion of maternal cells into fetal tissues

(2014) C.A. Labarrere et al.   PLACENTA

Maternal Biomarkers of Endothelial Dysfunction and Preterm Delivery

(2014) Xinhua Chen et al.   PLoS One

Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing

(2014) Yueqiu Tan et al.   GigaScience

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

A Bioinformatics Approach to Preterm Birth

(2012) Alper Uzun et al.   AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Association Testing for Next-Generation Sequencing Data Using Score Statistics

(2012) Line Skotte et al.   GENETIC EPIDEMIOLOGY

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

Expression of Dickkopf-1 and Beta-Catenin Related to the Prognosis of Breast Cancer Patients with Triple Negative Phenotype

(2012) Wen-Huan Xu et al.   PLoS One

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Prognostic value of intercellular adhesion molecule (ICAM)-1 expression in breast cancer

(2011) Christine Schröder et al.   JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY

BigWig and BigBed: enabling browsing of large distributed datasets

(2010) W. J. Kent et al.   BIOINFORMATICS

Successes of Genome-wide Association Studies

(2010) Robert J. Klein et al.   CELL

Neuroendocrine Mechanisms in Pregnancy and Parturition

(2010) Felice Petraglia et al.   ENDOCRINE REVIEWS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Early pregnancy peripheral blood gene expression and risk of preterm delivery: a nested case control study

(2009) Daniel A Enquobahrie et al.   BMC Pregnancy and Childbirth

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Preterm Birth in Caucasians Is Associated with Coagulation and Inflammation Pathway Gene Variants

(2008) Digna R. Velez et al.   PLoS One