Genetics in Medicine contents: Volume 20, Issue 3

TABLE OF CONTENTS Volume 20, Issue 3 (March 2018) In this issue Research Highlights Review Commentary Original Research Articles Special Article Brief Reports Letters to the Editor Corrigendum Podcast Also new AOP   Sign in for free ACMG member access Advertisement FOCAL POINT : MEDICAL INNOVATION Speeding up the sequencing In the age of genomic big data, the worlds of medicine and IT are rapidly colliding. Access free online Research Highlights In This Issue   Genetics in Medicine 2018 20 :283 - 283; March 29, 2018; 10.1038/gim.2018.14   Abstract | Full Text News Briefs   Genetics in Medicine 2018 20 :284 - 284; March 29, 2018; 10.1038/gim.2018.40   Abstract | Full Text Review Reconsidering the duty to warn genetically at-risk relatives Mark A Rothstein Genetics in Medicine 2018 20 :285 - 290; February 01, 2018; 10.1038/gim.2017.257   Abstract | Full Text Commentary Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty Karen E Weck Genetics in Medicine 2018 20 :291 - 293; February 01, 2018; 10.1038/gim.2017.269   Abstract | Full Text Original Research Articles Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye et al. Genetics in Medicine 2017 20 :294 - 302; July 20, 2017; 10.1038/gim.2017.80   Abstract | Full Text Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic et al. Genetics in Medicine 2017 20 :303 - 312; September 14, 2017; 10.1038/gim.2017.142   Abstract | Full Text “Possibly positive or certainly uncertain?”: participants’ responses to uncertain diagnostic results from exome sequencing Debra Skinner, Myra I Roche, Karen E Weck, Kelly A Raspberry, A Katherine M Foreman et al. Genetics in Medicine 2017 20 :313 - 319; October 02, 2017; 10.1038/gim.2017.135   Abstract | Full Text “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Judith Craft, Julian C Knight et al. Genetics in Medicine 2017 20 :320 - 328; October 26, 2017; 10.1038/gim.2017.157   Abstract | Full Text Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg et al. Genetics in Medicine 2017 20 :329 - 336; October 12, 2017; 10.1038/gim.2017.153   Abstract | Full Text Reactions to clinical reinterpretation of a gene variant by participants in a sequencing study Jennifer M Taber, William M P Klein, Katie L Lewis, Jennifer J Johnston, Leslie G Biesecker et al. Genetics in Medicine 2017 20 :337 - 345; July 27, 2017; 10.1038/gim.2017.88   Abstract | Full Text Observed frequency and challenges of variant reclassification in a hereditary cancer clinic Sarah Macklin, Nisha Durand, Paldeep Atwal & Stephanie Hines Genetics in Medicine 2017 20 :346 - 350; December 07, 2017; 10.1038/gim.2017.207   Abstract | Full Text Special Article Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf et al. Genetics in Medicine 2018 20 :351 - 359; January 04, 2018; 10.1038/gim.2017.218   Abstract | Full Text Brief Reports Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling Yury A Barbitoff, Igor V Bezdvornykh, Dmitrii E Polev, Elena A Serebryakova, Andrey S Glotov et al. Genetics in Medicine 2017 20 :360 - 364; October 26, 2017; 10.1038/gim.2017.168   Abstract | Full Text Reinterpretation of sequence variants: one diagnostic laboratory’s experience, and the need for standard guidelines Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan-Jordan et al. Genetics in Medicine 2017 20 :365 - 368; December 14, 2017; 10.1038/gim.2017.191   Abstract | Full Text Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience Austin Bland, Elizabeth A Harrington, Kyla Dunn, Mitchel Pariani, Julia C K Platt et al. Genetics in Medicine 2017 20 :369 - 373; December 14, 2017; 10.1038/gim.2017.212   Abstract | Full Text Letters to the Editor Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening Aarti Ramdaney, Diane M Dunn, Robert B Weiss & Nancy C Rose Genetics in Medicine 2017 20 :374 - 375; October 26, 2017; 10.1038/gim.2017.174   Abstract | Full Text Unmet needs in human genomic variant interpretation Peter Bauer, Ellen Karges, Gabriela Oprea & Arndt Rolfs Genetics in Medicine 2017 20 :376 - 377; October 26, 2017; 10.1038/gim.2017.187   Abstract | Full Text Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs Heidi L Rehm Genetics in Medicine 2017 20 :378 - 379; November 02, 2017; 10.1038/gim.2017.179   Abstract | Full Text Corrigendum Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation Dorota Monies, Sateesh Maddirevula, Wesam Kurdi, Mohammed H Alanazy, Hisham Alkhalidi et al. Genetics in Medicine 2018 20 :380 - 380; January 04, 2018; 10.1038/gim.2017.203   Abstract | Full Text Podcast Podcast FREE Podcast Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Genetics in Medicine. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. 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