Articles with "clinical genetics" as a keyword



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Using Patient-Reported Outcome Measures for Quality Improvement in Clinical Genetics: an Exploratory Study

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Published in 2017 at "Journal of Genetic Counseling"

DOI: 10.1007/s10897-017-0079-6

Abstract: International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective. Patient-reported outcome measures (PROMs) have significant potential to inform such attempts.… read more here.

Keywords: reported outcome; genetics; study; clinical genetics ... See more keywords
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Recontacting in clinical genetics and genomic medicine? We need to talk about it

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Published in 2017 at "European Journal of Human Genetics"

DOI: 10.1038/ejhg.2017.8

Abstract: THE PROBLEM An editorial in the AJMG,1 which accompanied the first systematic review conducted on the topic,2 suggested that advances in nextgeneration sequencing technologies and the volume of genomic information they deliver are leading clinicians… read more here.

Keywords: medicine; recontacting clinical; genomic medicine; genetics ... See more keywords
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Genome analysis and knowledge-driven variant interpretation with TGex

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Published in 2019 at "BMC Medical Genomics"

DOI: 10.1186/s12920-019-0647-8

Abstract: BackgroundThe clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underlying a patient’s phenotypes and… read more here.

Keywords: interpretation; analysis; genetics; non coding ... See more keywords
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Pitfalls in clinical genetics

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Published in 2023 at "Singapore Medical Journal"

DOI: 10.4103/singaporemedj.smj-2021-329

Abstract: With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL… read more here.

Keywords: clinical genetics; pitfalls clinical; genetics;