Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting

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

(2023) Shumin Li et al.   Genome Medicine

Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors

(2023) Eirini Christodoulou et al.   npj Precision Oncology

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

(2022) Yu Zheng et al.   Diagnostics

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

(2022) Ana C. V. Krepischi et al.   Scientific Reports

Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics

(2021) Zirui Dong et al.   GENETICS IN MEDICINE

Triploid pregnancy–Clinical implications

(2021) Diana Massalska et al.   CLINICAL GENETICS

Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis

(2021) Matthew Hoi Kin Chau et al.   Frontiers in Genetics

Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing

(2020) Darine Villela et al.   ANNALS OF HUMAN GENETICS

Low-Pass Genome Sequencing

(2020) Alka Chaubey et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing

(2019) Dongyi Yu et al.   Molecular Genetics & Genomic 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

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

(2019) Liesbeth Lenaerts et al.   ACTA CLINICA BELGICA

Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors

(2018) L Lenaerts et al.   ANNALS OF ONCOLOGY

European guidelines for constitutional cytogenomic analysis

(2018) Marisa Silva et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting

(2017) Darine Villela et al.   European Journal of Medical Genetics

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

(2016) Zirui Dong et al.   GENETICS IN MEDICINE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Copy number analysis by low coverage whole genome sequencing using ultra low-input DNA from formalin-fixed paraffin embedded tumor tissue

(2016) Tanjina Kader et al.   Genome Medicine

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

(2015) Wybo Dondorp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study

(2015) Peter Vandenberghe et al.   Lancet Haematology

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

(2014) Dagan Wells et al.   JOURNAL OF MEDICAL GENETICS

Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA

(2012) Y. M. D. Lo   Open Biology

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

(2009) A.C.V. Krepischi-Santos et al.   CYTOGENETIC AND GENOME RESEARCH