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26 Oct 2017 Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG) ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Sarah T.
On 22 March 2013, the American College of Medical Genetics and Genomics (ACMG) released a practice statement entitled “ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing." We firmly stated our view that there is a subset of conditions/genes/variants for which there is
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. G. Bradley Schaefer; & Nancy J. Mendelsohn. ACMG Practice Guidelines | 03 January 2013
9 Jan 2015 In this context the ACMG convened a workgroup in 2013 comprising repre- sentatives from the ACMG, the Association for Molecular Pathology. (AMP), and the College of American Pathologists to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted
are collected. Genet Med 2013:15(7):565–574. Key Words: genome; genomic medicine; incidental findings; per- sonalized medicine; secondary findings; sequencing; whole exome; whole genome. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Robert C. Green, MD,
26 Sep 2013 ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Sarah T. South PhD,,; Charles Lee PhD,,; Allen N. Lamb PhD,,; Anne W. Higgins PhD,; & Hutton M. Kearney PhD,; ; for the Working Group for the American
26 Sep 2013 ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Sarah T. South PhD; , Charles Lee PhD; , Allen N. Lamb PhD; , Anne W. Higgins PhD; & Hutton M. Kearney PhD; [] ; for the Working Group for the American
and guidelines. Genet Med advance online publication 25 July 2013. Key Words: ACMG; exome sequencing; genome sequencing; guidelines; next-generation sequencing; standards. ACMG clinical laboratory standards for next-generation sequencing. Heidi L. Rehm, PhD1,2, Sherri J. Bale, PhD3, Pinar Bayrak-Toydemir,
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Green RC(1), Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson
ics and Genomics has developed the following professional standards and guidelines. Genet Med advance online publication 25 July 2013. Key Words: ACMG; exome sequencing; genome sequencing; guidelines; next-generation sequencing; standards. ACMG clinical laboratory standards for next-generation sequencing.
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