Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals

OP035: Rapid Whole Genome Sequencing (rWGS) in the cardiac NICU

(2022) Saurav Guha et al.   GENETICS IN MEDICINE

Low-pass genome sequencing: a validated method in clinical cytogenetics

(2020) Matthew Hoi Kin Chau et al.   HUMAN GENETICS

Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis

(2019) Matthew Hoi Kin Chau et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

(2019) Huilin Wang et al.   GENETICS IN MEDICINE

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Pregnancy Outcomes in Women of Advanced Maternal Age: a Retrospective Cohort Study from China

(2018) Dan Shan et al.   Scientific Reports

Factors associated with spontaneous abortion: a cross-sectional study of Chinese populations

(2017) Danni Zheng et al.   Reproductive Health

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

(2016) Zirui Dong et al.   GENETICS IN MEDICINE

Next-Generation Proficiency Testing

(2016) Jeremy P. Segal   JOURNAL OF MOLECULAR DIAGNOSTICS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Methods-Based Proficiency Testing in Molecular Genetic Pathology

(2014) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

(2014) Desheng Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Current overview of pregnancy complications and live-birth outcome of assisted reproductive technology in mainland China

(2013) Xiaokui Yang et al.   FERTILITY AND STERILITY

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation

(2013) J.L. Hayes et al.   GENOMICS

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Proficiency Testing/External Quality Assessment: Current Challenges and Future Directions

(2011) W. G. Miller et al.   CLINICAL CHEMISTRY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

(2009) Chao Xie et al.   BMC BIOINFORMATICS