Publications by authors named "G P Porreca"
Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis by next-generation DNA sequencing (NGS) plus an assay for the 7.
View Article and Find Full Text PDFValidation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.
J Mol Diagn
March 2014
Article Synopsis
- Traditional carrier screening typically targets the most common gene mutations, making it less effective for diverse ethnic groups.
- Next-generation DNA sequencing offers a more comprehensive approach by allowing detection of a wider range of mutations based on the available clinical impact information.
- In a study involving 11,691 IVF patients, the new assay identified 449 mutant alleles, with about 25% of these mutations not found in conventional screening panels, highlighting the assay's utility and robustness in clinical practice.
Purpose: Carrier 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.
Methods: We 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).
We have determined the three-dimensional (3D) architecture of the Caulobacter crescentus genome by combining genome-wide chromatin interaction detection, live-cell imaging, and computational modeling. Using chromosome conformation capture carbon copy (5C), we derive ~13 kb resolution 3D models of the Caulobacter genome. The resulting models illustrate that the genome is ellipsoidal with periodically arranged arms.
View Article and Find Full Text PDFEfficient and cost-effective DNA sequencing technologies are critical to the progress of molecular biology. This overview of DNA sequencing strategies provides a high-level review of seven distinct approaches to DNA sequencing: (a) dideoxy sequencing; (b) solid phase sequencing; (c) sequencing-by-hybridization; (d) mass spectrometry; (e) cyclic array sequencing; (f) microelectrophoresis; and (g) nanopore sequencing. Other platforms currently in development are also briefly described.
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