Coming of age: ten years of next-generation sequencing technologies

S Goodwin, JD McPherson, WR McCombie - Nature reviews genetics, 2016 - nature.com
Since the completion of the human genome project in 2003, extraordinary progress has
been made in genome sequencing technologies, which has led to a decreased cost per …

[HTML][HTML] Genomics for the world

CD Bustamante, FM De La Vega, EG Burchard - Nature, 2011 - nature.com
Genomics for the world | Nature Skip to main content Thank you for visiting nature.com. You
are using a browser version with limited support for CSS. To obtain the best experience, we …

HGVA: the human genome variation archive

J Lopez, J Coll, M Haimel, S Kandasamy… - Nucleic acids …, 2017 - academic.oup.com
High-profile genomic variation projects like the 1000 Genomes project or the Exome
Aggregation Consortium, are generating a wealth of human genomic variation knowledge …

Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References

DJ Taylor, JM Eizenga, Q Li, A Das… - Annual Review of …, 2024 - annualreviews.org
The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

[HTML][HTML] The hundred-dollar genome: a health care cart before the genomic horse

S Singh - Cmaj, 2018 - Can Med Assoc
The science of genetics is grounded in the principles of inheritance outlined over 150 years
ago. Almost 100 years later, the physical bases for these principles were articulated in the …

CMDB: the comprehensive population genome variation database of China

Z Li, X Jiang, M Fang, Y Bai, S Liu… - Nucleic acids …, 2023 - academic.oup.com
A high-quality genome variation database derived from a large-scale population is one of
the most important infrastructures for genomics, clinical and translational medicine research …

[HTML][HTML] A new era of human population genetics

A Platt, J Novembre - Genome biology, 2012 - Springer
A new era of human population genetics | Genome Biology Skip to main content SpringerLink
Account Menu Find a journal Publish with us Track your research Search Cart 1.Home …

Impact of next generation sequencing: the 2009 Human Genome Variation Society scientific meeting

WS Oetting - 2010 - Wiley Online Library
The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on
the 20th of October, 2009, in Honolulu, Hawaii. The theme of this meeting was the “Impact of …

UK launches whole-genome sequencing pilot for babies

C Redit, Z Hura, L Amy - Nat Biotechnol, 2023 - nature.com
(WGS) can speed up the diagnosis and access to treatment for babies born with genetic
diseases. The Newborn Genomes Programme launched 13 December led by Genomics …

A user's guide to the human genome

TG Wolfsberg, KA Wetterstrand, MS Guyer, FS Collins… - Nature Genetics, 2003 - nature.com
The primary aim of A User's Guide to the Human Genome is to provide the reader with an
elementary hands-on guide for browsing and analyzing data produced by the International …