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PubMed Journals Articles About "DeCODE Genetics Inc & ARUP Laboratories" RSS

08:51 EDT 20th July 2018 | BioPortfolio

DeCODE Genetics Inc & ARUP Laboratories PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest DeCODE Genetics Inc & ARUP Laboratories articles that have been published worldwide.

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Showing "DeCODE Genetics ARUP Laboratories" PubMed Articles 1–25 of 2,500+

GHEP-ISFG collaborative exercise on mixture profiles (GHEP-MIX06). Reporting conclusions: Results and evaluation.

One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise o...


Lessons from a study of DNA contaminations from police services and forensic laboratories in Switzerland.

In Switzerland, the DNA profiles of police officers collecting crime scene traces as well as forensic genetic laboratories employees are stored in the staff index of the national DNA database to detect potential contaminations. Our study aimed at making a national inventory of contaminations to better understand their origin and to make recommendations in order to decrease their occurrence. For this purpose, a retrospective questionnaire was sent to both police services and forensic genetic laboratories for...

Antimicrobial sensitivity trends and virulence genes in Shigella spp. from the Oceania region.

Shigella is a common cause of diarrhoea in Papua New Guinea (PNG) and other Oceania countries. However, little is known about the strains causing infection. Archived Shigella isolates (n = 72) were obtained from research laboratories in PNG and reference laboratories in Australia. Shigella virulence genes were detected by PCR, and antimicrobial susceptibility was determined by disk diffusion. The ipaH virulence gene was present in all 72 isolates. The prevalence of other virulence genes was variable, wi...


Optimization of laboratory procedures for intrauterine insemination: survey of methods in relation to clinical outcome.

There is a wide practice variation of used methods and outcomes in IUI in fertility laboratories. Standardization of the IUI procedure is important for reducing inconsistency among laboratories in counseling infertile couples and in pregnancy results. The aim of the study was to evaluate the currently used laboratory procedures of IUI in Dutch fertility laboratories and their effect on IUI pregnancy results. Additionally, the methods for semen analysis (SA) were evaluated, as SA is related to IUI in terms o...

Challenges in the analysis of novel flame retardants in indoor dust: results of the INTERFLAB 2 interlaboratory evaluation.

The Interlaboratory Study of Novel Flame Retardants (INTERFLAB 2) was conducted by 20 laboratories in 12 countries to test the precision and accuracy of the analysis of 24 "novel" flame retardants (NFRs). Laboratories analyzed NFRs in injection-ready test mixtures, in extracts of residential dust, and in residential dust to evaluate the influence of dust handling and extraction. For test mixtures, mean reported concentrations of PBT, PBEB, EH-TBB, TBBPA, TBDP-TAZTO, TBOEP, α-TBCO, β-DBE-DBCH, and total HB...

Proficiency testing for the detection of Middle East respiratory syndrome-coronavirus demonstrates global capacity to detect MERS-CoV.

The first reported case of Middle East respiratory syndrome-coronavirus (MERS-CoV) infection was identified in Saudi Arabia in September 2012, since which time there have been over 2,000 laboratory-confirmed cases, including 750 deaths in 27 countries. Nucleic acid testing (NAT) is the preferred method for the detection of MERS-CoV. A single round of a Proficiency Testing Program (PTP) was used to assess the capability of laboratories globally to accurately detect the presence of MERS-CoV using NAT. A panel...

Cell-Free DNA Analysis in Maternal Blood: Differences in Estimates between Laboratories with Different Methodologies Using a Propensity Score Approach.

To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods.

The American Society for Clinical Pathology's 2016-2017 Vacancy Survey of Medical Laboratories in the United States.

To determine the extent and distribution of workforce shortages within the nation's medical laboratories.

Recognition of clinical genetics in Europe.

From Mendel to Medical Genetics.

Correction to: Valgaeren, Koppen and Van Camp, A New Perspective on the Genetics of Keratoconus: Why Have We Not Been More Successful?

Response to Nakaguma et al.

2017 Curt Stern Award: The Complexity of Simple Genetics.

Response to Biesecker and Harrison.

How Do You Design Undergraduate Genetics Laboratory Courses?

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

PurposeThe objective of this study was to assess the ability of our laboratory's exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe developed a two-tiered validation strategy: (i) a method-based approach that assessed the ability of our exome test to detect known variants using a reference HapMap sample, and (ii) an interpretation-based approach that assessed our relative ability to identify an...

Correction: Moss genetics and the way forward.

[This corrects the article DOI: 10.1371/journal.pgen.1007330.].

Mapping of the US Domestic Influenza Virologic Surveillance Landscape.

Influenza virologic surveillance is critical each season for tracking influenza circulation, following trends in antiviral drug resistance, detecting novel influenza infections in humans, and selecting viruses for use in annual seasonal vaccine production. We developed a framework and process map for characterizing the landscape of US influenza virologic surveillance into 5 tiers of influenza testing: outpatient settings (tier 1), inpatient settings and commercial laboratories (tier 2), state public health ...

Unmet needs in human genomic variant interpretation.

Genome-first findings require precision phenotyping.

Big data phenotyping in rare diseases: some ethical issues.

Collaborations in medical genetics: 10-year history of an ongoing Vietnamese-North American Collaboration.

Commutability and traceability in EQA programs.

The concept of commutability of samples has focused laboratories on the importance of traceability. However, the critical role of External Quality Assurance (EQA) in achieving the primary role of traceability (i.e. facilitating comparable patient results in different laboratories) has largely been lost. The aim of this paper is to review the role of EQA in achieving traceable results.

The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.


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