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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular
TLDR
Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context.
TLDR
The four haplotypes that showed different contextual effects on SNP function accounted for >98% of the estimated haplotypes in Caucasian and African-American populations, which underlines the importance of understanding the haplotype structure of populations used for genetic studies.
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
TLDR
This report describes the important issues considered by the CAP committee during the development of the new checklist requirements, which address documentation, validation, quality assurance, confirmatory testing, exception logs, monitoring of upgrades, variant interpretation and reporting, incidental findings, data storage, version traceability and data transfer confidentiality.
A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
TLDR
This research highlights the need to understand more fully the rationale behind the rapid decline in certain types of cancer in women over a longer period of time and the importance of informed consent in this process.
Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations
TLDR
IL1RN polymorphisms reproducibly contribute to disease severity in knee OA and may be useful biomarkers for patient selection in disease-modifying OA drug trials.
Good laboratory practice for clinical next-generation sequencing informatics pipelines
TLDR
This research highlights the need to understand more fully the role of Epstein-Barr virus in the development and management of central nervous system disorders.
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
TLDR
In a Policy Forum, Muin Khoury and colleagues discuss research on the clinical application of genome sequencing data and their implications for medicine and pedagogical practices.
Demographic differences in the utilization of clinical and direct-to-consumer genetic testing.
TLDR
Non-Hispanic Whites were more likely than other groups to have clinical genetic testing but were similar to Hispanics and non-Hispanic Blacks in rates of DTC genetic testing, suggesting racial/ethnic disparities in the use of clinical genetic services persist.
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