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Karyotyping

Karyotyping

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Updated: Dec 29, 2025

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

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Published on: May 6, 2010

scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.

Zhiqiang Yan^1,2,3,4,5, Xiaohui Zhu^1,2,3, Yuqian Wang^1,2,3

¹Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

BMC Bioinformatics

|February 3, 2020

Summary

This summary is machine-generated.

scHaplotyper reconstructs single-cell embryo haplotype profiles for preimplantation genetic diagnosis (PGD). This tool accurately identifies disease allele carriers, enabling healthy live births and preventing genetic disorders.

Keywords:

Haplotyping Preimplantation genetic diagnosis Single cell DNA sequencing Single gene disorder

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Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Area of Science:

Genetics
Reproductive Medicine
Bioinformatics

Background:

Haplotyping in preimplantation genetic diagnosis (PGD) tracks inherited chromosome blocks and disease alleles.
Single-cell haplotyping is challenged by whole genome amplification (WGA) artifacts in PGD.
Accurate reconstruction of embryonic haplotype profiles from WGA-affected genotypes is crucial.

Purpose of the Study:

To develop and validate scHaplotyper, a novel tool for reconstructing and visualizing single-cell haplotype profiles.
To enable accurate detection of disease allele carrier status in embryos during PGD.
To demonstrate the clinical utility of scHaplotyper in families with genetic disorders.

Main Methods:

Utilized a Hidden Markov Model (HMM) to reconstruct single-cell haplotype profiles.
Applied scHaplotyper to PGD cases in two families with known genetic disorders.
Integrated next-generation sequencing (NGS) data for haplotype analysis.

Main Results:

scHaplotyper successfully reconstructed haplotype profiles of single cells from embryos.
The tool traced the origin of haplotype blocks, enabling carrier status detection.
Clinical application in two families resulted in healthy live births, validating the method's efficacy.

Conclusions:

scHaplotyper provides a convenient and accurate method for genetic screening of preimplantation embryos.
NGS-based PGD using scHaplotyper can prevent the birth of babies with genetic disorders.
This approach offers significant benefits for patients seeking to avoid passing on genetic conditions.