Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Utilization of whole exome sequencing to identify hereditary mutations in Palestinian families with hereditary cancers.

Frontiers in genetics·2026
Same author

Phenotypic Variability of Kidney Involvement in Fabry Disease-Lessons from a Family Study.

Life (Basel, Switzerland)·2026
Same author

Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes.

The Journal of clinical endocrinology and metabolism·2026
Same author

Practical considerations when using the covariate-adjusted log-rank test for the analysis of time-to-event endpoints in oncology trials.

Biometrics·2026
Same author

Decision-Making Criteria in Polygenic Embryo Screening: A Survey of Reproductive Medicine Physicians.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder.

BMC medical genomics·2026

Related Experiment Video

Updated: Jul 12, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.4K

SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.

Daniel Backenroth1, Gheona Altarescu2,3, Fouad Zahdeh4

  • 1Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Scientific Reports
|October 21, 2023
PubMed
Summary
This summary is machine-generated.

SHaploseek is a new sequencing-only method for preimplantation genetic testing (PGT). This accurate and cost-effective solution enhances genome-wide haplotype determination for embryos, improving PGT efficiency.

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.1K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.9K

Related Experiment Videos

Last Updated: Jul 12, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.4K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

3.1K
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.9K

Area of Science:

  • Genetics and Genomics
  • Reproductive Medicine
  • Bioinformatics

Background:

  • Preimplantation genetic testing (PGT) is crucial for reproductive health.
  • Existing methods like Haploseek combine microarray and low-pass sequencing.
  • There is a need for more versatile and higher-throughput PGT solutions.

Purpose of the Study:

  • To develop a sequencing-only implementation of Haploseek for PGT.
  • To create SHaploseek, a universal method for genome-wide embryonic haplotype determination.
  • To enhance throughput and versatility in comprehensive PGT.

Main Methods:

  • Developed SHaploseek using low-pass sequencing (≤5x) of parents/relatives and ultra-low-pass sequencing (0.2-0.4x) of embryos.
  • Analyzed single lymphoblast cells and 31 embryos using SHaploseek.
  • Validated genome-wide haplotype predictions against bulk DNA, Haploseek, and PCR-based PGT.

Main Results:

  • SHaploseek achieved >99% concordance with bulk DNA from single cells.
  • All focal site haplotype predictions in embryos were concordant with clinical PCR-based PGT.
  • Demonstrated >99% median concordance with Haploseek, maintaining high accuracy with low DNA input and sequencing depth (≥2x).

Conclusions:

  • SHaploseek is an accurate, cost-effective, and versatile comprehensive PGT solution.
  • It offers improved high-confidence haplotype predictions, especially in subtelomeric regions.
  • SHaploseek represents a significant advancement in single-platform PGT technology.