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DNA sequencing / Genomics / Biotechnology / Exome sequencing / Full genome sequencing / Multiplex / Genotyping / Medical genetics / Sequencing / Biology / Genetics / Molecular biology


ACMG clinical laboratory standards for next-generation sequencing
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Document Date: 2013-09-06 11:04:58

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File Size: 415,97 KB

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City

Greenwood / Amplification Sequencing Hybridization / Gaithersburg / Boston / Hybridization / al PCR / /

Company

Clinical Genetic Laboratories / Optimize / 9Emory Genetics Laboratory / 8Molecular Diagnostic Laboratory / /

Country

United States / /

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Event

Product Issues / FDA Phase / /

Facility

University of Utah / American College of Medical Genetics / Emory University / University of North Carolina / Massachusetts General Hospital / Greenwood Genetic Center / Women’s Hospital / Laboratory Medicine / Current American College of Medical Genetics / Chapel Hill / ARUP Institute / /

IndustryTerm

alignment tool / laboratory genetic services / individual products / variant-calling algorithms / companion technology / less time-sensitive applications / platform-specific base-calling algorithm / Short-read technologies / software packages / variant calling tools / companion technologies / silico algorithms / large-scale recessive-disease carrier / healthcare providers / costly technology / per-sample processing cost / parallel chemical reactions / test protocol / data analysis tools / open-source tools / online tool / orthogonal technology / alignment algorithms / carrier status / expanded search / technology level / instrument software / software applications / software / oncology applications / hardware infrastructure / technology-specific biases / tools / advance online publication / diagnostic tool / /

MedicalCondition

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Movie

D.3 / D.2 / D.4 / D.6 / D.5 / /

MusicGroup

ES / /

NaturalFeature

Chapel Hill / /

Organization

American College of Medical Genetics / UCLA / Los Angeles / University of Utah / Salt Lake City / the American College / ARUP Institute for Clinical and Experimental Pathology / Harvard Medical School / University of North Carolina / Women’s Hospital / Massachusetts General Hospital / Centers for Disease Control and Prevention / Laboratory for Molecular Medicine / Healthcare Center for Personalized Genetic Medicine / US Food and Drug Administration / Emory University / Atlanta / David Geffen School of Medicine / American College of Medical Genetics and Genomics Standards / /

Person

Michael J. Friez / Heidi L. Rehm / Joshua L. Deignan / Jonathan S. Berg / Pinar Bayrak-Toydemir / Kerry K. Brown / Elaine Lyon / Birgit H. Funke / Madhuri R. Hegde / Sherri J. Bale / /

Position

components and entire test General / physician / ordering physician / skilled analyst / laboratory director / /

Product

NGS / coverage / /

ProgrammingLanguage

FP / /

ProvinceOrState

Utah / South Carolina / Georgia / Maryland / North Carolina / Massachusetts / /

PublishedMedium

Parameters / /

Technology

alternative technology / diagnostic tests / 15 Because NGS technologies / human genome / gene expression / sequencing technologies / variant-calling algorithms / orthogonal technology / Short-read technologies / DNA hybridization / Genomics / bioinformatics / hybridization / companion technologies / alignment algorithms / test protocol / NGS technology / companion technology / constantly evolving technologies / http / SNP / NGS technologies / appropriate / platform-specific base-calling algorithm / /

URL

http /

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