2012. DNA sequencing costs: Data from the NHGRI large-scale genome sequencing program. National Human Genome Research Institute, Bethesda, [en linea][consultado el 12 de julio de 2013] disponible en :http://www.genome.gov/sequencingcostsWetterstrand KS. 2013. DNA sequencing costs: data from ...
Data were collected on resource use and unit costs for each step in the pathway. This included the average staff time for each activity and salary data, use of equipment (initial costs, maintenance costs, and proportion of time used for genome sequencing diagnostics, for both computing and labo...
Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, i
PacBio reads are expensive per base—somewhere between Sanger and Illumina (http://www.genome.gov/sequencingcosts/)—but compared to the Illumina platforms, in which genomic coverage is highly biased toward against GC-rich regions, PacBio coverage is virtually unbiased and thus less coverage is ...
The analysis of whole-genome sequencing studies is challenging due to the large number of noncoding rare variants, our limited understanding of their functional effects, and the lack of natural units for testing. Here we propose a scan statistic framewor
The associated reduction in sequencing cost is dramatic, dropping from over 5000 dollars per megabase in 2001 to 23 cents at the start of 2011 (http://www.genome.gov/sequencing costs). At first, researchers used genome sequencing mostly to provide tools for geneticists and developmental ...
Such studies would allow to weigh possible cost-reductions from phasing out workflows and changes in workforce against potential increase of per-sample sequencing costs, as well as the costs associated with (ease of) clinical data interpretation. Here, we report on our laboratories, which together ...
Genome sequencing (GS) is the latest broad-based, unbiased testing method to become more readily available, on both research and clinical bases, as next-generation sequencing costs have fallen [8]. Below, we discuss the current landscape of Mendelian disease, the utility of broad-based genomic ...
Furthermore, advancements in sequencing technologies in recent years coupled with the continual reduction in sequencing costs have made WGS increasingly accessible. Its superiority in identifying single nucleotide polymorphisms (SNPs), insertions, and deletions (Indels) further underscores its significance, re...
1,2 In recent years, decreasing costs and advances in analytic methods have made high-throughput whole-genome sequencing (WGS) and whole-exome sequencing (WES) feasible alternatives to array-based genotyping in GWASs.3,4 Sequencing offers a significant advantage over array-based methods, with ...