ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Next-generation carrier screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 46 citations in OpenAlex.
- Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.Journal of assisted reproduction and genetics · 2025Article
- Highly multiplexed targeted sequencing strategy for infectious disease surveillance.BMC biotechnology · 2023Article
- A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.NPJ genomic medicine · 2022Article
- Investigation of EGFR mutations in non-small cell lung cancer usually undetectable by PCR methods.Molecular and clinical oncology · 2022Article
- Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.BMC medical genomics · 2020Article
- Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.Molecular genetics & genomic medicine · 2020Article
- Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.Frontiers in neurology · 2019Article
- Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.Journal of genetic counseling · 2018Article
- Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.EBioMedicine · 2017Article
- miR-183/96 plays a pivotal regulatory role in mouse photoreceptor maturation and maintenance.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.Oncotarget · 2017Article
- Genomic sequencing in clinical practice: applications, challenges, and opportunities.Dialogues in clinical neuroscience · 2016Review
- Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.BMC medical genomics · 2016Article
- Carrier screening by next-generation sequencing: health benefits and cost effectiveness.Molecular genetics & genomic medicine · 2016Article
- A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.Molecular genetics & genomic medicine · 2015Article
- ClinSeK: a targeted variant characterization framework for clinical sequencing.Genome medicine · 2015Article
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing.Bioinformatics (Oxford, England) · 2014Article
- Next-generation carrier screening: are we ready?Genome medicine · 2014Article
- Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.Molecular genetics & genomic medicine · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCarrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing-based workflow to enable analysis of a more comprehensive set of disease-causing mutations.
methodsWe utilized molecular inversion probes to capture the protein-coding regions of 15 genes from genomic DNA isolated from whole blood and sequenced those regions using the Illumina HiSeq 2000 (Illumina, San Diego, CA). To assess the quality of the resulting data, we measured both the fraction of the targeted region yielding high-quality genotype calls, and the sensitivity and specificity of those calls by comparison with conventional Sanger sequencing across hundreds of samples. Finally, to improve the overall accuracy for detecting insertions and deletions, we introduce a novel assembly-based approach that substantially increases sensitivity without reducing specificity.
resultsWe generated high-quality sequence for at least 99.8% of targeted base pairs in samples derived from blood and achieved high concordance with Sanger sequencing (sensitivity >99.9%, specificity >99.999%). Our novel algorithm is capable of detecting insertions and deletions inaccessible by current methods.
conclusionOur next-generation DNA sequencing-based approach yields the accuracy and completeness necessary for a carrier screening test.
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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.