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https://www.readbyqxmd.com/read/28512758/reporting-practices-for-unsolicited-and-secondary-findings-from-next-generation-sequencing-technologies-perspectives-of-laboratory-personnel
#1
Danya F Vears, Karine Sénécal, Pascal Borry
While next generation sequencing has enormous potential to identify genetic causes of disease, the nature of the technology means that it can also identify additional information about the individual receiving sequencing that is unrelated to the original rationale for testing. Reporting these unsolicited findings (UF) to clinicians, and subsequently to patients, could lead to potentially lifesaving interventions. Most international guidelines provide limited specific recommendations as to whether these UF should be reported...
May 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/28492532/sherloc-a-comprehensive-refinement-of-the-acmg-amp-variant-classification-criteria
#2
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook, Scott Topper
PurposeThe 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines were a major step toward establishing a common framework for variant classification. In practice, however, several aspects of the guidelines lack specificity, are subject to varied interpretations, or fail to capture relevant aspects of clinical molecular genetics. A simple implementation of the guidelines in their current form is insufficient for consistent and comprehensive variant classification...
May 11, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28492529/corrigendum-acmg-recommendations-for-reporting-of-incidental-findings-in-clinical-exome-and-genome-sequencing
#3
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond, Heidi L Rehm, Michael S Watson, Marc S Williams, Leslie G Biesecker
No abstract text is available yet for this article.
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28449774/utility-of-post-mortem-genetic-testing-in-cases-of-sudden-arrhythmic-death-syndrome
#4
Najim Lahrouchi, Hariharan Raju, Elisabeth M Lodder, Efstathios Papatheodorou, James S Ware, Michael Papadakis, Rafik Tadros, Della Cole, Jonathan R Skinner, Jackie Crawford, Donald R Love, Chee J Pua, Bee Y Soh, Jaydutt D Bhalshankar, Risha Govind, Jacob Tfelt-Hansen, Bo G Winkel, Christian van der Werf, Yanushi D Wijeyeratne, Greg Mellor, Jan Till, Marta C Cohen, Maria Tome-Esteban, Sanjay Sharma, Arthur A M Wilde, Stuart A Cook, Connie R Bezzina, Mary N Sheppard, Elijah R Behr
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. OBJECTIVES: This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. METHODS: We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes...
May 2, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28406490/acmg-secondary-findings-2-0
#5
Leslie G Biesecker
No abstract text is available yet for this article.
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28406489/consensus-recommendation-for-a-diagnostic-guideline-for-acid-sphingomyelinase-deficiency
#6
Margaret M McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K Mistry, Edward H Schuchman, Melissa P Wasserstein
Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease...
April 13, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28391405/postmortem-genetic-testing-should-be-recommended-in-sudden-cardiac-death-cases-due-to-thoracic-aortic-dissection
#7
Marina Gago-Díaz, Eva Ramos-Luis, Silvia Zoppis, Esther Zorio, Pilar Molina, Aitana Braza-Boïls, Juan Giner, Beatriz Sobrino, Jorge Amigo, Alejandro Blanco-Verea, Ángel Carracedo, María Brion
BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases...
April 8, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28383573/corrigendum-recommendations-for-reporting-of-secondary-findings-in-clinical-exome-and-genome-sequencing-2016-update-acmg-sf-v2-0-a-policy-statement-of-the-american-college-of-medical-genetics-and-genomics
#8
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28366031/what-do-the-new-american-college-of-medical-genetics-and-genomics-acmg-guidelines-mean-for-the-provision-of-non-invasive-prenatal-genetic-screening
#9
Megan Allyse, Myra J Wick
In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. This article lays out the changes to the guidelines and their implications for clinical practice. Impact Statement What is already known on this subject.cfDNA is being translated into prenatal clinical practice at a rapid pace. Various professional societies have attempted to provide ongoing guidance for this translation. What the results of this study add...
April 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28364669/suggestion-of-brca1-c-5339t-c-p-l1780p-variant-confer-from-unknown-significance-to-likely-pathogenic-based-on-clinical-evidence-in-korea
#10
Jai Min Ryu, Goeun Kang, Seok Jin Nam, Seok Won Kim, Jonghan Yu, Se Kyung Lee, Soo Youn Bae, Sungmin Park, Hyun-June Paik, Jong-Won Kim, Sung-Shin Park, Jeong Eon Lee, Sung-Won Kim
PURPOSE: We describe a rationale for the re-classification of the BRCA1 c.5539T>C (L1780P) variant using a clinical evidence. METHODS: A retrospective review was conducted to identify all patients with breast or ovarian cancer and the L1780P variant between 2002 and 2015 at a single institution. RESULTS: We identified the BRCA1/2 genetic mutation test results of 1223 breast cancer patients and 174 patients with ovarian cancer. Of the 160 BRCA 1/2 variant unknown significance, 16 (10...
March 29, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28361098/building-a-family-network-from-genetic-testing
#11
Kathleen A Leppig, Heidi A Thiese, David Carrel, David R Crosslin, Michael O Dorschner, Adam S Gordon, Andrea Hartzler, James Ralston, Aaron Scrol, Eric B Larson, Gail P Jarvik
BACKGROUND: Genetic testing has multigenerational and familial repercussions. However, the "trickle-down effect" of providing genetic counseling and testing to family members at risk after an initial identification of a pathogenic variant in a medically actionable gene has been poorly understood. METHODS: Three probands were identified during the pharmacogenetics research phase of eMERGEII (electronic MEdical Record and Genomics, phase II) to have variants in genes associated with autosomal dominant adult-onset disorders determined to be actionable by the American College of Medical Genetics (ACMG)...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#12
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28332257/exomic-variants-of-an-elderly-cohort-of-brazilians-in-the-abraom-database
#13
Michel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira de Almeida, Suzana A M Ezquina, Daniele Yumi Sunaga, Nam Pho, Daniel Bozoklian, Tatiana Orli Milkewitz Sandberg, Luciano Abreu Brito, Monize Lazar, Danilo Vicensotto Bernardo, Edson Amaro, Yeda A O Duarte, Maria Lúcia Lebrão, Maria Rita Passos-Bueno, Mayana Zatz
Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet still underrepresented in genomic databanks. We hereby present a collection of exomic variants from 609 elderly Brazilians in a census-based cohort (SABE609) with comprehensive phenotyping. Variants were deposited in ABraOM (Online Archive of Brazilian Mutations), a Web-based public database. Population representative phenotype and genotype repositories are essential for variant interpretation through allele frequency filtering; since elderly individuals are less likely to harbor pathogenic mutations for early- and adult-onset diseases, such variant databases are of great interest...
March 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28301460/clinical-laboratories-collaborate-to-resolve-differences-in-variant-interpretations-submitted-to-clinvar
#14
Steven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, Tina Pesaran, Danielle R Azzariti, Sherri Bale, Elizabeth C Chao, Soma Das, Lisa Vincent, Heidi L Rehm
PURPOSE: Data sharing through ClinVar offers a unique opportunity to identify interpretation differences between laboratories. As part of a ClinGen initiative, four clinical laboratories (Ambry, GeneDx, Partners Healthcare Laboratory for Molecular Medicine, and University of Chicago Genetic Services Laboratory) collaborated to identify the basis of interpretation differences and to investigate if data sharing and reassessment resolve interpretation differences by analyzing a subset of variants...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28298635/novel-mutations-in-crygc-are-associated-with-congenital-cataracts-in-chinese-families
#15
Zilin Zhong, Zehua Wu, Liyun Han, Jianjun Chen
Congenital cataract (CC), responsible for about one-third of blindness in infants, is a major cause of vision loss in children worldwide. 10-25% of CC cases are attributed to genetic causes and CC is a clinically and genetically highly heterogeneous lens disorder in children. Autosomal dominant (AD) inheritance is the most commonly pattern. 195 unrelated non-syndromic ADCC families in this study are recruited from 15 provinces of China. Sanger sequencing approach followed by intra-familial co-segregation, in Silico analyses and interpretation of the variations according to the published guidelines of American College of Medical Genetics (ACMG), were employed to determine the genetic defects...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28278367/a-systematic-review-and-critical-evaluation-of-reported-pathogenic-sequence-variants-in-hidradenitis-suppurativa
#16
REVIEW
J W Frew, D A Vekic, J Woods, G D Cains
INTRODUCTION: Hidradenitis Suppurativa (HS) is a severe chronic inflammatory disorder characterised by recurrent painful deep seated nodules with a predilection to the apocrine bearing areas of skin. A minority of cases of HS are due to mutations in the gamma secretase complex. Contention exists surrounding the pathogenicity of sequence variants and their effects upon notch signalling. METHODS: This systematic review was registered with PROSPERO (CRD42016041425) and was conducted in line with the PRISMA statement...
March 9, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28170077/clinical-application-of-acmg-amp-guidelines-in-hnf1a-and-gck-variants-in-a-cohort-of-mody-families
#17
Lucas Santos de Santana, Lilian Araujo Caetano, Aline Dantas Costa-Riquetto, Elisangela Pereira de Souza Quedas, Marcia Nery, Paulo Collett-Solberg, Margaret Cristina da Silva Boguszewski, Marcio Faleiros Vendramini, Lindiane Gomes Crisostomo, Flavia Osmo Floh, Zuleica Isabel Zarabia, Suely Keiko Kohara, Leila Guastapaglia, Caroline de Gouveia Buff Passone, Leticia Esposito Sewaybricker, Alexander Augusto de Lima Jorge, Milena Gurgel Teles
Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK-MODY and HNF1A-MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY (GCK / HNF1A) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines...
February 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28157586/the-current-state-of-clinical-interpretation-of-sequence-variants
#18
REVIEW
Derick C Hoskinson, Adrian M Dubuc, Heather Mason-Suares
Accurate and consistent variant classification is required for Precision Medicine. But clinical variant classification remains in its infancy. While recent guidelines put forth jointly by the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) for the classification of Mendelian variants has advanced the field, the degree of subjectivity allowed by these guidelines can still lead to inconsistent classification across clinical molecular genetic laboratories. In addition, there are currently no such guidelines for somatic cancer variants, only published institutional practices...
January 31, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28132688/intervar-clinical-interpretation-of-genetic-variants-by-the-2015-acmg-amp-guidelines
#19
Quan Li, Kai Wang
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published updated standards and guidelines for the clinical interpretation of sequence variants with respect to human diseases on the basis of 28 criteria. However, variability between individual interpreters can be extensive because of reasons such as the different understandings of these guidelines and the lack of standard algorithms for implementing them, yet computational tools for semi-automated variant interpretation are not available...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28125080/genome-editing-in-clinical-genetics-points-to-consider-a-statement-of-the-american-college-of-medical-genetics-and-genomics
#20
Acmg Board Of Directors
Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers, to help them provide quality medical genetic services. Adherence to these recommendations does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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