ReviewGenome medicine2013
Preimplantation genetic diagnosis guided by single-cell genomics.
Review in Genome medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 53 citations in OpenAlex.
- Comparative Genomic Hybridization (CGH) in Genotoxicology: From the Basics to Modern Approaches.Methods in molecular biology (Clifton, N.J.) · 2026Review
- Transcriptomics empower assisted reproductive technology in decoding gamete and embryo development potential: a review.Journal of assisted reproduction and genetics · 2025Review
- Non-standardized protein background in IVF media linked to serum-derived albumin supplementation.Journal of assisted reproduction and genetics · 2025Article
- Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review.Oman medical journal · 2025Article
- Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.Diagnostics (Basel, Switzerland) · 2021Article
- Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.BMC medical genomics · 2020Article
- Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives.Cold Spring Harbor perspectives in medicine · 2020Review
- Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.Scientific reports · 2020Article
- scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.BMC bioinformatics · 2020Article
- The evolving role of genetic tests in reproductive medicine.Journal of translational medicine · 2019Review
- Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Exploring DNA quality of single cells for genome analysis with simultaneous whole-genome amplification.Scientific reports · 2018Article
- Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia type 1: case report.JBRA assisted reproduction · 2018Article
- The performance of MALBAC and MDA methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta-thalassaemia disorders at the single- and multiple-cell levels.Journal of clinical laboratory analysis · 2018Article
- De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
- Next-generation molecular diagnosis: single-cell sequencing from bench to bedside.Cellular and molecular life sciences : CMLS · 2017Review
- Improved DOP-PCR (iDOP-PCR): A robust and simple WGA method for efficient amplification of low copy number genomic DNA.PloS one · 2017Article
- TruePrime is a novel method for whole-genome amplification from single cells based on TthPrimPol.Nature communications · 2016Article
- Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia.Reproductive sciences (Thousand Oaks, Calif.) · 2016Article
- Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping.Scientific reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preimplantation genetic diagnosis (PGD) aims to help couples with heritable genetic disorders to avoid the birth of diseased offspring or the recurrence of loss of conception. Following in vitro fertilization, one or a few cells are biopsied from each human preimplantation embryo for genetic testing, allowing diagnosis and selection of healthy embryos for uterine transfer. Although classical methods, including single-cell PCR and fluorescent in situ hybridization, enable PGD for many genetic disorders, they have limitations. They often require family-specific designs and can be labor intensive, resulting in long waiting lists. Furthermore, certain types of genetic anomalies are not easy to diagnose using these classical approaches, and healthy offspring carrying the parental mutant allele(s) can result. Recently, state-of-the-art methods for single-cell genomics have flourished, which may overcome the limitations associated with classical PGD, and these underpin the development of generic assays for PGD that enable selection of embryos not only for the familial genetic disorder in question, but also for various other genetic aberrations and traits at once. Here, we discuss the latest single-cell genomics methodologies based on DNA microarrays, single-nucleotide polymorphism arrays or next-generation sequence analysis. We focus on their strengths, their validation status, their weaknesses and the challenges for implementing them in PGD.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.