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

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells

20 Mar 2025

Abstract excerpt

Long-read whole-genome sequencing (lrWGS) enhances haplotyping by providing more phasing information per read compared to short-read sequencing. However, its use for single-cell haplotype phasing remains underexplored. This proof-of-concept study examines lrWGS data from single cells for small variant (single nucleotide variant (SNV) and indel) and structural variation (SV) calling, as well as haplotyping, using...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40167327
DOI: 10.1093/nar/gkaf247

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cellsPMID 40167327Read ↗

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cellsSemantic proximity Read ↗

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingSemantic proximity Read ↗

Concurrent whole-genome haplotyping and copy-number profiling of single cells.Semantic proximity Read ↗

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testingSemantic proximity Read ↗

Long-read-based single sperm genome sequencing for chromosome-wide haplotype phasing of both SNPs and SVs.Semantic proximity Read ↗

Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.Semantic proximity Read ↗

Direct chromosome-length haplotyping by single-cell sequencing.Semantic proximity Read ↗

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family.Semantic proximity Read ↗

The role of single-cell genomics in human genetics.Semantic proximity Read ↗

Sequencing of isolated sperm cells for direct haplotyping of a human genome.Semantic proximity Read ↗

Haplotype-aware inference of human chromosome abnormalitiesSemantic proximity Read ↗

Single-cell genomics meets human genetics.Semantic proximity Read ↗

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