About: Communicating new knowledge on previously reported genetic variants

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scientific article published on 05 April 2012

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2012 (ast) наукова стаття, опублікована у квітні 2012 (uk) scientific article published on 05 April 2012 (en) مقالة علمية نشرت في 05 أبريل 2012 (ar)
publication date	wds:Q37346302-26738DE9-366F-4DAC-AC43-9C647248A792
publication date	2012-04-05 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37346302-E1206750-AD5D-44C4-B8B8-96A76563B1EE
language of work or name	English
exact match	wds:Q37346302-06A84472-1340-4103-BFAA-EA350B263B23
exact match	https://scigraph.springernature.com/pub.10.1038/gim.2012.19
cites work	wds:Q37346302-0AE82E09-A9D2-409D-A7E6-9E58D677C134 wds:Q37346302-242123B4-AE4D-446D-9C0E-37BC88643952 wds:Q37346302-508B9D24-B371-4856-9FA4-901841FB132C wds:Q37346302-6170129B-F381-48C7-BC5B-0DC8FF91C8B7 wds:Q37346302-75197927-204D-422B-A136-BAC1D8939002 wds:Q37346302-A08C52F8-5A91-4E40-A396-36E3B09AB276 wds:Q37346302-EBF44BDF-6E37-4101-B8E0-B2AF6773C163
cites work	Initial impact of the sequencing of the human genome Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 Duty to re-contact. The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing Use and interpretation of genetic tests in cardiovascular genetics Multidimensional results reporting to participants in genomic studies: getting it right.
author name string	wds:Q37346302-1DE5DE1A-BBE4-4AE1-9421-5FE2B2AA7A92 wds:Q37346302-35BBC42F-A980-425B-B04E-CE2354F36598 wds:Q37346302-96CF492A-6E17-4B0B-A0E0-4D7BD8EF3338 wds:Q37346302-DA64E6D9-C5BA-46F6-8751-A5F583F90047 wds:Q37346302-DC707E06-F288-4037-B261-87865975A89C
author name string	Matthew Varugheese Samantha Baxter Samuel J Aronson Eugene H Clark Lawrence J Babb
rdfs:label	Communicating new knowledge on previously reported genetic variants (en) Communicating new knowledge on previously reported genetic variants (nl) Communicating new knowledge on previously reported genetic variants (ast)
skos:prefLabel	Communicating new knowledge on previously reported genetic variants (en) Communicating new knowledge on previously reported genetic variants (nl) Communicating new knowledge on previously reported genetic variants (ast)
name	Communicating new knowledge on previously reported genetic variants (en) Communicating new knowledge on previously reported genetic variants (nl) Communicating new knowledge on previously reported genetic variants (ast)
author	wds:Q37346302-55D954FA-42A8-4AE1-B3D2-39CF887BAD0A
author	Heidi L. Rehm
title	wds:Q37346302-12D4A8B1-F0E5-479C-A972-62BEE3545A85
title	Communicating new knowledge on previously reported genetic variants (en)
instance of	wds:Q37346302-707E1085-D0F3-4EA5-BA77-F0FC22A6E00B
instance of	scholarly article
PubMed ID	wds:Q37346302-58E125AB-64D1-4E52-A7F3-F75D62F85620
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22481129
PubMed ID	22481129
published in	wds:Q37346302-87D83839-456A-4590-8091-84DD20D52AC0
published in	Genetics in Medicine
DOI	wds:Q37346302-A1B1679B-C13D-4A3A-889F-3DDBC6FA358B
DOI	http://dx.doi.org/10.1038/GIM.2012.19
DOI	10.1038/GIM.2012.19
ResearchGate publication ID	wds:Q37346302-89CACA0A-C46A-42BE-9C91-B05F8BC94044
ResearchGate publication ID	223962690
PMCID	wds:Q37346302-C3679BAC-764F-4814-83C3-2DC99D9CA683
PMCID	3841913
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q37346302
is cites work of	Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates A novel clinician interface to improve clinician access to up-to-date genetic results Building the foundation for genomics in precision medicine Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Characterizing genetic variants for clinical action ClinGen--the Clinical Genome Resource 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 Pathology Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations A systematic approach to the reporting of medically relevant findings from whole genome sequencing Telemedicine uptake among Genetics Professionals in Europe: room for expansion Usability of a novel clinician interface for genetic results Management of incidental findings in clinical genomic sequencing A proposed clinical decision support architecture capable of supporting whole genome sequence information The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record Asthma genetics and personalised medicine CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record Ethics and genomic medicine, how to navigate decisions in surgical oncology Information Technology Support for Clinical Genetic Testing within an Academic Medical Center. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification. Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing Data resources for the identification and interpretation of actionable mutations by clinicians.

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