Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

9 Oct 2023

Abstract excerpt

INTRODUCTION: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV analysis is the low-pass whole genome sequencing (LP-WGS). Here, we evaluated the performance of LP-WGS to detect copy number variants (CNVs) in clinical cytogenetics. MATERIALS AND METHODS: DNA samples with known...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37807935
DOI: 10.1111/ahg.12532

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical settingPMID 37807935Read ↗

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical settingSemantic proximity Read ↗

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countriesSemantic proximity Read ↗

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed diseaseSemantic proximity Read ↗

Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.Semantic proximity Read ↗

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR TestingSemantic proximity Read ↗

Low Pass Whole Genome sequencing - a cost-effective new technique for the identification of aneuploidies and copy number variations: a study of 1372 clinical samples in an Indian cohortSemantic proximity Read ↗

Copy number variant detection with low-coverage whole-genome sequencing is a viable alternative to the traditional array-CGHSemantic proximity Read ↗

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Semantic proximity Read ↗

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populationsSemantic proximity Read ↗

Whole-genome sequencing analysis of copy number variation (CNV) using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysisSemantic proximity Read ↗

A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel SequencingSemantic proximity Read ↗

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical ApplicationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.