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2017

Returning results in genetics

The great strides in diagnostic and research technology have had a tremendous impact on genetic services. Notably the advent of Next Generation Sequencing has enabled genetics professionals to be of much more help to patients and caretakers than in the early years of DNA diagnostics. Yet, it hasn't become easier: gene discoveries in families who were out of sight for years or even decades, variants of unknown significance surfacing in disease genes or cancer risk factors, research findings with potential clinical significance in otherwise healthy study participants, the emergence of direct-to-consumer testing, what to do with findings relevant to family members or children?
In short, returning results has become a major focus of discussion and research. Different methods, findings and best practices of returning results in different situations, have received major attention over the past years in EJHG, and as a service to our readers we have collected these papers in this new Web Focus.

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2016

Top Papers from 2014 and 2015

European Journal of Human Genetics is proud to publish a wide variety of articles in the blossoming field of human genetics and genomics. In this web focus we highlight the best cited articles published in 2014 and 2015, ten from each year. As you can now read for yourself, our readers are interested in a broad and interesting mix of scientific, service and societal issues, whilst also population genetics, biobanking and methods improvement can get you well-cited in EJHG.

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2014

The EUROPEAN HUMAN GENETICS CONFERENCE 2014

A web focus from European Journal of Human Genetics

This web collection is published in conjunction with the The EUROPEAN HUMAN GENETICS CONFERENCE 2014.

The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet.

Follow the contributions to the latest debates in European Journal of Human Genetics

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2013

Biobanks

A web focus from European Journal of Human Genetics

This web collection is published in conjunction with the HandsOn: Biobanks conference 2013 (PPTX, 389kB). During HandsOn: Biobanks 2013, the focus will be on all matters of biobanking and specifically on how biobanking interacts and links with other disciplines.

The future of next generation sequencing?

A web focus from European Journal of Human Genetics and Oncogene

Next generation sequencing is rapidly pervading all areas of Human genetics: improving speed, precision, and last but not least breadth of diagnostics; opening up new avenues of screening; are screening and testing still different or is there a confluence? In parallel, it profoundly affects basic biology discovery by unravelling mutation mechanisms and causes and consequences in gene regulation and what goes wrong in genetic disease and cancer. Besides many insights, the data deluge also brings questions: on how to handle this, internally and towards the patients; the role of geneticists in the process; how - and if - to integrate direct to consumer services; how to maintain a proper public-private balance to allow therapy development but avoid undue restrictions in data access.

Follow the contributions to this debate in European Journal of Human Genetics and Oncogene

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2012

Psychosocial aspects of advancing genetics

The great strides in advancing resolution in genetic diagnosis, largely due to molecular techniques with nextgen sequencing as trailblazer, is fuelling the debate on the discordance between resolution and precision. Somewhere between those two lies the holy grail of patient benefit. Do we need to find everything, and can we, already. And then, do we need to tell it all? Do our traditional values still hold? Screening and diagnostics are converging at high speed, but still not at the same point on the horizon, it seems. Follow the contributions to this debate in your EJHG.