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

04:11 EDT 20th March 2018 | BioPortfolio

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Showing "DeCODE Genetics ARUP Laboratories" PubMed Articles 1–25 of 2,800+

Understanding variations in secondary findings reporting practices across U.S. genome sequencing laboratories.

Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been ...

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories.

Genetic tests of the cancer predisposition genes BRCA1 and BRCA2 inform significant clinical decisions for both physicians and patients. Most uncovered variants are benign, and determining which few are pathogenic (disease-causing) is sometimes challenging and can potentially be inconsistent among laboratories. The ClinVar database makes de-identified clinical variant classifications from multiple laboratories publicly available for comparison and review, per recommendations of the American Medical Associat...

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating ...

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...

Repeatability and variability of total T4 measurements at three German veterinary laboratories.

To evaluate the reproducibility of serum testing for total thyroxine (T4) in three German laboratories.

Survey of laboratory practices for diagnosis of fungal infection in seven Asian countries: An Asia Fungal Working Group (AFWG) initiative.

An online survey of mycology laboratories in seven Asian countries was conducted to assess the status, competence, and services available. Country representatives from the Asia Fungal Working Group (AFWG) contacted as many laboratories performing mycology diagnosis as possible in their respective countries, requesting that the laboratory heads complete the online survey. In total, 241 laboratories responded, including 71 in China, 104 in India, 11 in Indonesia, 26 in the Philippines, four in Singapore, 18 i...

Direct PCR amplification of forensic touch and other challenging DNA samples: A review.

DNA evidence sample processing typically involves DNA extraction, quantification, and STR amplification; however, DNA loss can occur at both the DNA extraction and quantification steps, which is not ideal for forensic evidence containing low levels of DNA. Direct PCR amplification of forensic unknown samples has been suggested as a means to circumvent extraction and quantification, thereby retaining the DNA typically lost during those procedures. Direct PCR amplification is a method in which a sample is add...

An inter-laboratory comparison study on transfer, persistence and recovery of DNA from cable ties.

To address questions on the activity that led to the deposition of biological traces in a particular case, general information on the probabilities of transfer, persistence and recovery of cellular material in relevant scenarios is necessary. These figures may be derived from experimental data described in forensic literature when conditions relevant to the case were included. The experimental methodology regarding sampling, DNA extraction, DNA typing and profile interpretation that were used to generate th...

Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.

Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed.

Introduction to behavioral phenotypes in medical genetics.

Using comparative genomics to decode the genetics of acaricide resistance.

The availability of genome assemblies and other genomic resources is facilitating investigations of complex genetic traits for several species of ticks. Understanding the genetics of acaricide resistance is a priority for tick and tick-borne disease control. The synaptic enzyme acetylcholinesterase (ACE) is recognized as the target of organophosphates (OPs) and carbamates, and mutations in ACE have been tied to resistance. Multiple studies support three ACE (ace) loci in R. microplus but the molecular basis...

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.

Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.

Review of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.

Genetics and Psychiatry: Myth or Reality?

Greek mythology and philosophical speculations were the first human productions on madness and psychiatry. Likewise, the origins of genetics sink their roots in a very remote and difficult time. This work tries to give an idea of the relationship between genetics and psychiatry through the myth and reality.

Recognition of clinical genetics in Europe.

In This Issue.

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...

From Mendel to Medical Genetics.

Response to Bauer et al.

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

News Briefs.

Response to Koeller et al.

2017 Curt Stern Award: The Complexity of Simple Genetics.

Response to Biesecker and Harrison.

How Do You Design Undergraduate Genetics Laboratory Courses?

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