Human genome sequencing in health and disease

C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

Emerging DNA sequencing technologies for human genomic medicine

RL Strausberg, S Levy, YH Rogers - Drug discovery today, 2008 - Elsevier
The completion of draft sequences of the human genome represented a remarkable
achievement for automated DNA sequencing based on Sanger technology. However, the …

Genome sequencing in the clinic: the past, present, and future of genomic medicine

JW Prokop, T May, K Strong… - Physiological …, 2018 - journals.physiology.org
Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely
used research tool into an approach that has broad applications in a clinical setting. From …

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

SF Kingsmore, CJ Saunders - Science translational medicine, 2011 - science.org
Next-generation sequencing technologies have greatly lowered the cost of whole-genome
sequencing (WGS) and related approaches. Thus, comprehensive sequencing for …

Human genetics and genomics a decade after the release of the draft sequence of the human genome

N Naidoo, Y Pawitan, R Soong, DN Cooper, CS Ku - Human genomics, 2011 - Springer
Substantial progress has been made in human genetics and genomics research over the
past ten years since the publication of the draft sequence of the human genome in 2001 …

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

JS Berg, MJ Khoury, JP Evans - Genetics in medicine, 2011 - nature.com
Technological advances often outpace our ability to effec-tively use them, a situation that
certainly could pertain to modern genomics. Breathtaking advances in genetic sequencing …

Genomics in clinical practice: lessons from the front lines

HJ Jacob, K Abrams, DP Bick, K Brodie… - Science translational …, 2013 - science.org
The price of whole-genome and-exome sequencing has fallen to the point where these
methods can be applied to clinical medicine. Here, we outline the lessons we have learned …

Implications of the human genome for understanding human biology and medicine

G Subramanian, MD Adams, JC Venter, S Broder - Jama, 2001 - jamanetwork.com
Clinical researchers, practicing physicians, patients, and the general public now live in a
world in which the 2.9 billion nucleotide codes of the human genome are available as a …

Personal genome sequencing: current approaches and challenges

M Snyder, J Du, M Gerstein - Genes & development, 2010 - genesdev.cshlp.org
The revolution in DNA sequencing technologies has now made it feasible to determine the
genome sequences of many individuals; ie,“personal genomes.” Genome sequences of …

Advantages and limitations of next‐generation sequencing technologies: a comparison of electrophoresis and non‐electrophoresis methods

DG Hert, CP Fredlake, AE Barron - Electrophoresis, 2008 - Wiley Online Library
The reference human genome provides an adequate basis for biological researchers to
study the relationship between genotype and the associated phenotypes, but a large push is …