The complete genome of an individual by massively parallel DNA sequencing

DA Wheeler, M Srinivasan, M Egholm, Y Shen, L Chen… - nature, 2008 - nature.com
The association of genetic variation with disease and drug response, and improvements in
nucleic acid technologies, have given great optimism for the impact of 'genomic medicine' …

Resolving the complexity of the human genome using single-molecule sequencing

MJP Chaisson, J Huddleston, MY Dennis, PH Sudmant… - Nature, 2015 - nature.com
The human genome is arguably the most complete mammalian reference assembly,,, yet
more than 160 euchromatic gaps remain,, and aspects of its structural variation remain …

The end of the start for population sequencing

E Birney, N Soranzo - Nature, 2015 - nature.com
The end of the start for population sequencing | 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 …

Single-molecule sequencing of an individual human genome

D Pushkarev, NF Neff, SR Quake - Nature biotechnology, 2009 - nature.com
Recent advances in high-throughput DNA sequencing technologies have enabled order-of-
magnitude improvements in both cost and throughput. Here we report the use of single …

Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

BA Peters, BG Kermani, AB Sparks, O Alferov, P Hong… - Nature, 2012 - nature.com
Recent advances in whole-genome sequencing have brought the vision of personal
genomics and genomic medicine closer to reality. However, current methods lack clinical …

A decade's perspective on DNA sequencing technology

ER Mardis - Nature, 2011 - nature.com
The decade since the Human Genome Project ended has witnessed a remarkable
sequencing technology explosion that has permitted a multitude of questions about the …

The diploid genome sequence of an Asian individual

J Wang, W Wang, R Li, Y Li, G Tian, L Goodman… - Nature, 2008 - nature.com
Here we present the first diploid genome sequence of an Asian individual. The genome was
sequenced to 36-fold average coverage using massively parallel sequencing technology …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …

DNA sequencing: Massively parallel genomics

SPA Fodor - Science, 1997 - science.org
An enormous amount of genetic sequence data has been obtained with gel-based DNA
sequencing methods [HN1]. To understand the function of the genes and their health …

[HTML][HTML] A highly annotated whole-genome sequence of a Korean individual

JI Kim, YS Ju, H Park, S Kim, S Lee, JH Yi, J Mudge… - nature, 2009 - nature.com
Recent advances in sequencing technologies have initiated an era of personal genome
sequences. To date, human genome sequences have been reported for individuals with …