Friday, 12 May 2017

New issue of the revived Journal of Genetic Genealogy


The first issue (Volume 8 Number 1) of the newly relaunched Journal of Genetic Genealogy (JoGG) is now available online. Some of the articles were published online as preprints towards the end of last year but this is now the complete issue.

JOGG is a free open access peer reviewed journal which provides a much-needed platform for publication of articles on all aspects of genetic genealogy. Here is a description of the journal's aims and scope:
Topics include, but are not limited to, autosomal DNA inheritance, surname DNA projects, geographic patterns in genetic data, phylogenetic analyses, haplogroup categorization, and mutation rates. Genetic genealogists have access to larger datasets with more markers than are usually available to genetic researchers, although the sampling may not be random (e.g., surname studies) and the datasets may vary in quality (e.g., inconsistent marker sampling). Therefore, JoGG is a forum for research that may not fall within the scope of more genetically oriented journals. The journal is likely to have an audience in both the lay and academic communities.
Thank you to Leah Larkin for taking on the role of editor and thank you to Linda Magellan for all her hard work on the website and preparing the content for online publication.

Contributions for future issues of the journal are welcome. Detailed instructions can be found on the Instructions for authors page.

Here is a list of contents for the new issue:

Reports
Y-DNA Testing of a Paper Trail - The Fox Surname Project
By Joseph M. Fox III and David E. Fox

Evidence of early gene flow between Ashkenazi Jews and non-Jewish European inmictochondral DNA haplogroup H7
By Doron Yacobi and Felice L. Bedford, Ph.D.

Columns, Editorials and Features

Editor's Corner
Leah Larkin, Ph.D.
Welcome to the new Journal of Genetic Genealogy

Satiable Curiosity
Ann Turner, M.D.
Generation Gaps: A Sign of Microdeletions?

CeCe Moore
The History of Genetic Genealogy and Unknown Parentage Research: AnInsider's View

Blaine T. Bettinger, Ph.D., J.D.
The Shared cM Project: A Demonstration of the Power of Citizen Science

Reviews and announcements

Review By:  Leah Larkin, Ph.D.
App:  Genome Mate Pro 

Review By:  Jennifer Armstrong Zinck
Book:  Genetic Genealogy in Practice
Authors:  Blaine T. Bettinger and Debbie Parker Wayne

Further reading
The Journal of Genetic Genealogy and scientific publishing by Leah Larkin. The DNA Geek, 12 May 2017.

UCL workshop on "Personal Genetic Testing: Challenges, Pitfalls, and Benefits in and Beyond the Clinic"

The front entrance of UCL. Photo by Neil Turner.
Originally published on Flickr under a Creative Commons Licence.
We are hosting a workshop at University College London (UCL) on 27th June on “Personal Genetic Testing: Challenges, Pitfalls, and Benefits in and Beyond the Clinic”

It will take place between 09.45 and 19.30 at the UCL Anthropology Department, 14 Taviton Street, London.
The event is free to attend but there are only a limited number of spaces at the venue so if you are interested in coming along make sure you register at EventBrite:

https://www.eventbrite.co.uk/e/personal-genetic-testing-challenges-and-benefits-in-and-beyond-the-clinic-tickets-34145019673

Here is the timetable for the meeting:

09.45. Welcome

10.00. Keynote Speech: Genetics and Identity - Adam Rutherford (BBC)

11.00-11.20. ~ Coffee Break ~

11.20. Science of Ancestry Testing, Focus Group - Garrett Hellenthal (UCL), Debbie Kennett (UCL), Turi King (University of Leicester), David Nicholson (Living DNA), Mike Mulligan (AncestryDNA), Mark Thomas (Moderator, UCL)

12.20-13.30. ~ Lunch ~

13.30. Ethical Issues in Personal Genetic Testing, Panel - Ernesto Schwartz-Marin (Durham University), Speaker TBC, Matthias Wienroth (Moderator, Northumbria University)

14.30. Social Science Perspectives on Personal Genetic Testing and Identity, Panel - Catherine Nash (Queen Mary University), Speaker TBC, Sahra Gibbon (Moderator, UCL)

15.30-16.00. ~ Coffee break ~

16.00. Security and Privacy Challenges in Genomics, Tutorial - Emiliano De Cristofaro (UCL)

17.00. Medical and Research Aspects of Personal Genetic Testing, Short Talks - Stephen Beck (UCL), David Bentley (Illumina), Joyce Harper (UCL, moderator)

18.00. Reception

Please note that the agenda may change and will be confirmed a few days before the event as we are still finalising some invitations. Please check the Eventbrite page for updates.

Abstract
The rapid growth of the Personal Genetic Testing (PGT) market raises a number of important scientific, ethical, legal and social concerns, including data security, privacy, and identity, as well as issues around the accuracy, utility, and communication of inferences regarding ancestry, biological predispositions, disease vulnerability, and the sharing of personal data with third parties.

At the same time, PGT has great potential value to individuals and healthcare providers. Realising this potential requires evidence-based standards for translating commercial genetic testing data into actionable medical information, and educating clinicians and the public on what can and cannot be inferred from personal genomes.

Sponsored by the UCL Grand Challenges Initiative, this workshop aims at establishing a highly interdisciplinary, highly engaged UK-based community of researchers and practitioners that are eager to tackle the various challenges associated with personal genetic testing and inform policymakers, clinicians, and companies.

Monday, 8 May 2017

Dante Labs offers whole genome sequencing to European market for €850


A new biotech start-up by the name of Dante Labs is joining a growing number of companies who are offering whole genome sequencing at ever more competitive prices. Dante is a global company based in the US but with an office in Italy. They are catering specifically for the European market and are offering a high-coverage (30x) whole genome sequencing test with interpretation for €850 (about £718 or US $929 at current exchange rates). Customers can have access to their raw data on request.

It is not clear what is provided with the Dante Laboratories interpretation service. There are no sample reports available on the website and no details are provided of the scientific personnel who will be doing the analysis.

Many of the companies selling whole genome sequencing tests (eg, Veritas Genetics and Sure Genomics) only sell their test in the US and require the customer to order through a doctor whereas the test from Dante is available direct to the consumer. There are two companies  Full Genomes Corporation and YSEQ  which sell whole genome testing worldwide for the genetic genealogy market. Both companies specialise in the interpretation of Y-chromosome results and do not provide medical reports.

For details of other companies offering whole genome sequencing see the list of DNA testing companies in the ISOGG Wiki.

Below is the press release I received from Dante Labs.
Dante Labs offers EUR 850 Whole Genome Sequencing 
THE INTERNATIONAL BIOTECH COMPANY OFFERS FOR THE FIRST TIME IN THE WORLD WHOLE GENOME SEQUENCING AND INTERPRETATION AT ONLY EUR 850, MARKING A HISTORIC STEP IN THE DEMOCRATIZATION OF GENETICS. 
New York, NY April 18, 2017 – Dante Labs today announced that they are offering 
Whole Genome Sequencing (WGS) and interpretation at only EUR 850 (ca. $900). While American individuals were able to access whole genome sequencing at $1,000, this innovation marks the first time Europeans can access whole genome sequencing below EUR 1,000. 
The sequencing includes bioinformatics analysis and interpretation, which are crucial to leverage genetic information and apply it into decisions about disease monitoring, prevention, nutrition, exercise, health monitoring and more. 
The Whole Genome Sequencing is run at 30X, which makes the achievement even more impressive. 
Dante Labs has chosen a selected list of partners to develop DNA sequencing services “accessible to everyone”. “By leveraging only the world’s best genetic technologies, we ensure that our customers have access to the best in the world of genetics,” says Dante Labs co-founder Andrea Riposati. “Genetics has seen tremendous developments in the last decade. Just think that the first whole genome sequencing cost north of $2.4 billion. For too long, only few people could benefit from the impact of genetic research. It’s healthcare, so I say it is important everyone benefits from it. The key to empower everyone with high-quality, advanced genetics it is to decrease the price. By integrating in the value chain, removing unnecessary intermediaries, developing synergies with strategic partners and leveraging economies of scale, we are able to offer the whole genome sequencing at only EUR 850.” 
Dante Labs offers a suite of direct-to-consumer DNA tests, including BRCA1 and BRAC2 sequencing, Whole Exome Sequencing and Common Hereditary Cancer. 
About Dante Labs
Founded in 2016, Dante Labs is a global pioneer in developing direct-to-consumer genetic services. The company mission is to empower people with knowledge and insights about their own genetic information so that they can live healthy, long and happy lives. Dante Labs has offices in the US and Europe.