Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews

Like the Progress Educational Trust on Facebook


The Fertility Show


 

Largest catalogue of human genomic variation published

05 October 2015

By Dr Rosie Gilchrist

Appeared in BioNews 822

An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalogue of genomic differences among humans.

The catalogue is reported in two papers in the journal Nature. These mark the completion of the project, in which researchers have sequenced the genomes of 2504 people from 26 different populations across Africa, East and South Asia, Europe and the Americas.

'The 1000 Genomes Project data are a resource for any study in which scientists are looking for genomic contributions to disease,' said Dr Lisa Brooks, Programme Director at the National Human Genome Research Institute in Bethesda, Maryland.

Most differences between people's genomes – so-called variants – are neutral. However, they can also be either beneficial or cause increased susceptibility to diseases such as cancer, diabetes and heart conditions. Understanding how genomic variants contribute to such diseases could help researchers develop improved diagnostics and treatments.

In these papers, researchers catalogued over 88 million variants between individuals. Most of these (84.7 million) were variants in a single letter of the DNA sequence, but around 69,000 were structural variants – deletions or rearrangements of larger sequences of DNA – many of which affected genes.

'The 1000 Genomes Project has laid the foundation for others to answer really interesting questions,' said Dr Adam Auton, senior author on the main study and former assistant professor of genetics at the Albert Einstein College of Medicine in New York City, who now works at the personal genomics corporation 23andMe. 'Everyone now wants to know what these variants tell us about human disease.'

As well as providing a useful resource of data about genetic variation, the 1000 Genomes Project has also contributed to advances in technology for DNA sequencing and analysis, which have been vital for the completion of the project.

'We've learned a great deal about how to do genomics on a large scale,' said Professor Gonçalo Abecasis, chair of biostatistics at the University of Michigan in Ann Arbor and joint principal investigator on one of the papers. 'Over the course of the 1000 Genomes Project, we developed new, improved methods for large-scale DNA sequencing, analysis and interpretation of genomic information, in addition to how to store this much data. We learned how to do quality genomic studies in different contexts and parts of the world.'

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

18 January 2016 - by Dr Molly Godfrey 
Two girls have become the first children to be diagnosed with rare genetic conditions through the 100,000 Genomes Project – the NHS DNA-sequencing initiative...
30 November 2015 - by Dr Jane Currie 
Scientists have used genome-editing technology to identify a core set of 1580 genes that are essential to human life...
02 November 2015 - by Klaus Mitchell 
How will the human race evolve over the next few hundred years? This is an interesting question that divides opinion among biologists. One such scientist, Professor Steve Jones, the famed British geneticist, recently discussed this topic with presenter Peter Snow on BBC Radio 4...

28 September 2015 - by Antony Blackburn-Starza 
Health and genetic data from the UK Biobank has revealed new genetic associations between smoking and lung cancer, including five areas of DNA for the first time associated with heavy smoking.
21 September 2015 - by Dr Nicoletta Charolidi 
The first findings from the UK10K project, the largest population genome sequencing effort to date, have been made available to worldwide researchers...
17 August 2015 - by Isobel Steer 
Compared to ancestral humans, most modern people have lost 40.7 million base pairs of DNA...
13 July 2015 - by Chris Baldacci 
Scientists have warned that the world of genomics is headed for a data bottleneck...
29 June 2015 - by Paul Waldron 
Genome analysis software developed by the Broad Institute is now available in cloud form to users of Google's online genetic data storage services...

HAVE YOUR SAY
Be the first to have your say.

You need to or  to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions


- click here to enquire about using this story.

Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


BOOK HERE

Good Fundraising Code

Become a Friend of PET HERE and give the Progress Educational Trust a regular donation