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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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
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 …
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 …
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 …
study the relationship between genotype and the associated phenotypes, but a large push is …