ACMG clinical laboratory standards for next-generation sequencing.
Heidi L. Rehm,Sherri J. Bale,Pinar Bayrak-Toydemir,Jonathan S. Berg,Kerry K. Brown,Joshua L. Deignan,Michael J. Friez,Birgit Funke,Birgit Funke,Madhuri Hegde,Elaine Lyon +10 more
TL;DR: The American College of Medical Genetics and Genomics has developed the following professional standards and guidelines to assist clinical laboratories with the validation ofNext-generation sequencing methods and platforms, the ongoing monitoring of next- generation sequencing testing to ensure quality results, and the interpretation and reporting of variants found using these technologies.
read more
About: This article is published in Genetics in Medicine. The article was published on 25 Jul 2013. and is currently open access. The article focuses on the topics: Exome sequencing.
read more
Chat with Paper
AI Agents for this Paper
Find similar papers on Google Scholar, PubMed and Arxiv
Write a critical review of this paper
Analyze citations of this paper to find unaddressed research gaps
Citations
Untargeted profiling of cell-free circulating DNA
TL;DR: Studies which applied untargeted approaches for ctDNA analyses including WES, WGS and epigenetic profiling are reviewed, the advantages over targeted approaches are highlighted, and novel approaches of ct DNA are presented, which move beyond somatic copy number alterations (SCNA) and single nucleotide variants (SNV).
Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays.
Anne Reiman,Sarojini Pandey,Kate L Lloyd,Nigel P. Dyer,Mike Khan,Martin Crockard,Mark J Latten,Tracey L Watson,Ian A Cree,Dimitris K. Grammatopoulos,Dimitris K. Grammatopoulos +10 more
TL;DR: Ion Torrent-based next-generation sequencing can deliver a suitable alternative for the molecular investigation of familial hypercholesterolaemia patients, especially when comprehensive mutation screening for rare or unknown mutations is required.
8
Clinical bioinformatics: emergence of a new laboratory discipline.
John W Belmont,Chad A. Shaw +1 more
TL;DR: A new discipline is clearly emerging that is distinctly different from the wet lab responsibilities of traditional molecular genetics and molecular cytogenetics training, and recognition of this new professional role will help it mature in a way that can support all the future challenges coming in genomic diagnosis.
8
Analytic inquiry: Validation and practical considerations.
TL;DR: The basic principles of molecular test validation as it applies to cytopathology samples are reviewed, along with a brief review of issues that pertain specifically to next‐generation sequencing.
8
Documento de consenso sobre la implementación de la secuenciación masiva de nueva generación en el diagnóstico genético de la predisposición hereditaria al cáncer
José Luis Soto,Ignacio Blanco,Orland Diez,Javier García Planells,Isabel Lorda,Gert Matthijs,Mercedes Robledo,Erika Souche,Conxi Lázaro +8 more
TL;DR: The presente guia es establecer un marco de recomendaciones utiles para una implementacion planificada y controlada of the NGS en el contexto of the predisposicion hereditaria a cancer, that permita potenciar las fortalezas y oportunidades that ofrece dicha tecnologia y minimizar las debilidades y amenazas that puedan derivarse de su us
8
References
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo,Eric Banks,Ryan Poplin,Kiran V. Garimella,Jared Maguire,Christopher Hartl,Anthony A. Philippakis,Anthony A. Philippakis,Anthony A. Philippakis,Guillermo del Angel,Manuel A. Rivas,Manuel A. Rivas,Matt Hanna,Aaron McKenna,Timothy Fennell,Andrew Kernytsky,Andrey Sivachenko,Kristian Cibulskis,Stacey Gabriel,David Altshuler,David Altshuler,Mark J. Daly,Mark J. Daly +22 more
TL;DR: A unified analytic framework to discover and genotype variation among multiple samples simultaneously that achieves sensitive and specific results across five sequencing technologies and three distinct, canonical experimental designs is presented.
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green,Robert C. Green,Jonathan S. Berg,Wayne W. Grody,Sarah S. Kalia,Bruce R. Korf,Christa Lese Martin,Amy L. McGuire,Robert L. Nussbaum,Julianne M. O’Daniel,Kelly E. Ormond,Heidi L. Rehm,Heidi L. Rehm,Michael S. Watson,Marc S. Williams,Leslie G. Biesecker +15 more
TL;DR: It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
2.4K
The Diploid Genome Sequence of an Individual Human
Samuel Levy,Granger G. Sutton,Pauline C. Ng,Lars Feuk,Aaron L. Halpern,Brian P. Walenz,Nelson Axelrod,Jiaqi Huang,Ewen F. Kirkness,Gennady Denisov,Yuan Lin,Jeffrey R. MacDonald,Andy Wing Chun Pang,Mary Shago,Timothy B. Stockwell,Alexia Tsiamouri,Vineet Bafna,Vikas Bansal,Saul A. Kravitz,Dana A. Busam,Karen Beeson,Tina C McIntosh,Karin A. Remington,Josep F. Abril,John Gill,Jon Borman,Yu-Hui Rogers,Marvin Frazier,Stephen W. Scherer,Robert L. Strausberg,J. Craig Venter +30 more
TL;DR: A modified version of the Celera assembler is developed to facilitate the identification and comparison of alternate alleles within this individual diploid genome, and a novel haplotype assembly strategy is used, able to span 1.5 Gb of genome sequence in segments >200 kb, providing further precision to the diploids nature of the genome.
Prescribing personalized nutrition for cardiovascular health: are we ready?
TL;DR: Current understanding of nutrient-gene interactions for CVD is limited, making personalized nutrition therapy difficult at this time, and in the near future, dietitians and nutritionists will be able to give personalized nutritional advice based on a combination of lifestyle factors and genetics.
Field guide to next-generation DNA sequencers
TL;DR: T careful thought about the desired characteristics of these systems is warranted before purchasing or using any of them, and the major characteristics of each commercially available platform are summarized.
1.2K
Related Papers (5)
Monkol Lek,Konrad J. Karczewski,Konrad J. Karczewski,Eric Vallabh Minikel,Eric Vallabh Minikel,Kaitlin E. Samocha,Eric Banks,Timothy Fennell,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,Anne H. O’Donnell-Luria,James S. Ware,Andrew J. Hill,Andrew J. Hill,Andrew J. Hill,Beryl B. Cummings,Beryl B. Cummings,Taru Tukiainen,Taru Tukiainen,Daniel P. Birnbaum,Jack A. Kosmicki,Laramie E. Duncan,Laramie E. Duncan,Karol Estrada,Karol Estrada,Fengmei Zhao,Fengmei Zhao,James Zou,Emma Pierce-Hoffman,Emma Pierce-Hoffman,Joanne Berghout,David Neil Cooper,Nicole A. Deflaux,Mark A. DePristo,Ron Do,Jason Flannick,Jason Flannick,Menachem Fromer,Laura D. Gauthier,Jackie Goldstein,Jackie Goldstein,Namrata Gupta,Daniel P. Howrigan,Daniel P. Howrigan,Adam Kiezun,Mitja I. Kurki,Mitja I. Kurki,Ami Levy Moonshine,Pradeep Natarajan,Lorena Orozco,Gina M. Peloso,Gina M. Peloso,Ryan Poplin,Manuel A. Rivas,Valentin Ruano-Rubio,Samuel A. Rose,Douglas M. Ruderfer,Khalid Shakir,Peter D. Stenson,Christine Stevens,Brett Thomas,Brett Thomas,Grace Tiao,María Teresa Tusié-Luna,Ben Weisburd,Hong-Hee Won,Dongmei Yu,David Altshuler,David Altshuler,Diego Ardissino,Michael Boehnke,John Danesh,Stacey Donnelly,Roberto Elosua,Jose C. Florez,Jose C. Florez,Stacey Gabriel,Gad Getz,Gad Getz,Stephen J. Glatt,Christina M. Hultman,Sekar Kathiresan,Markku Laakso,Steven A. McCarroll,Steven A. McCarroll,Mark I. McCarthy,Mark I. McCarthy,Dermot P.B. McGovern,Ruth McPherson,Benjamin M. Neale,Benjamin M. Neale,Aarno Palotie,Shaun Purcell,Danish Saleheen,Jeremiah M. Scharf,Pamela Sklar,Patrick F. Sullivan,Patrick F. Sullivan,Jaakko Tuomilehto,Ming T. Tsuang,Hugh Watkins,Hugh Watkins,James G. Wilson,Mark J. Daly,Mark J. Daly,Daniel G. MacArthur,Daniel G. MacArthur +106 more