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

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.

Journal of human genetics - 1 Oct 2022

Wakita Sachiko, Hara Mari, Kitabatake Yasuji, Kawatani Keiji, Kurahashi Hiroki, Hashizume Ryotaro

Abstract excerpt

Modern sequencing technologies produce a single consensus sequence without distinguishing between homologous chromosomes. Haplotype phasing solves this limitation by identifying alleles on the maternal and paternal chromosomes. This information is critical for understanding gene expression models in genetic disease research. Furthermore, the haplotype phasing of three homologous chromosomes in trisomy cells is...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chromosomes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 21

Share to Down Syndrome

Share to Haplotypes

Share to Polymorphism, Single Nucleotide

Share to Trisomy

Source

Open in PubMed Open full text

Identifiers

PMID: 35637312
DOI: 10.1038/s10038-022-01049-6
PMCID: PMC9510051

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination technique.PMID 35637312Read ↗

Single cell genomics to study DNA and chromosome changes in human gametes and embryos.Semantic proximity Read ↗

Trisomic rescue via allele-specific multiple chromosome cleavage using CRISPR-Cas9 in trisomy 21 cellsSemantic proximity Read ↗

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

Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.Semantic proximity Read ↗

Trisomy 21 and Assisted Reproductive Technologies: A reviewSemantic proximity Read ↗

A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.Semantic proximity Read ↗

[Advances in haplotype analysis technique].Semantic proximity Read ↗

Chromosome-Range Whole-Genome High-Throughput Experimental Haplotyping by Single-Chromosome Microdissection.Semantic proximity Read ↗

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.Semantic proximity Read ↗

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

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.Semantic proximity Read ↗

Molecular approaches to trisomy 21.Semantic proximity Read ↗

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