| Title |
Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis
|
|---|---|
| Published in |
American Journal of Epidemiology, May 2017
|
| DOI | 10.1093/aje/kww224 |
| Pubmed ID | |
| Authors |
Rachel L Goldfeder, Dennis P Wall, Muin J Khoury, John P A Ioannidis, Euan A Ashley |
| Abstract |
Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health, researchers have pursued methods for determining the sequences of individual genes, then all genes, and now complete human genomes. Massively parallel high-throughput sequencing technology, where DNA is sheared into smaller pieces, sequenced, and then computationally reordered and analyzed, enables fast and affordable sequencing of full human genomes. As the price of sequencing continues to decline, more and more individuals are having their genomes sequenced. This may facilitate better population-level disease subtyping and characterization, as well as individual-level diagnosis and personalized treatment and prevention plans. In this review, we describe several massively parallel high-throughput DNA sequencing technologies and their associated strengths, limitations, and error modes, with a focus on applications in epidemiologic research and precision medicine. We detail the methods used to computationally process and interpret sequence data to inform medical or preventative action. |
X Demographics
The data shown below were collected from the profiles of 27 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 10 | 37% |
| United Kingdom | 2 | 7% |
| Colombia | 2 | 7% |
| Germany | 1 | 4% |
| India | 1 | 4% |
| Georgia | 1 | 4% |
| South Africa | 1 | 4% |
| Unknown | 9 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 10 | 37% |
| Scientists | 8 | 30% |
| Science communicators (journalists, bloggers, editors) | 4 | 15% |
| Practitioners (doctors, other healthcare professionals) | 4 | 15% |
| Unknown | 1 | 4% |
Mendeley readers
The data shown below were compiled from readership statistics for 129 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 129 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 21 | 16% |
| Student > Bachelor | 21 | 16% |
| Student > Master | 15 | 12% |
| Researcher | 14 | 11% |
| Student > Doctoral Student | 8 | 6% |
| Other | 16 | 12% |
| Unknown | 34 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 28 | 22% |
| Medicine and Dentistry | 19 | 15% |
| Agricultural and Biological Sciences | 14 | 11% |
| Computer Science | 7 | 5% |
| Engineering | 6 | 5% |
| Other | 20 | 16% |
| Unknown | 35 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 19. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 December 2021.
All research outputs
#1,965,829
of 25,998,826 outputs
Outputs from American Journal of Epidemiology
#1,334
of 9,128 outputs
Outputs of similar age
#36,288
of 329,060 outputs
Outputs of similar age from American Journal of Epidemiology
#38
of 178 outputs
Altmetric has tracked 25,998,826 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 9,128 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 20.0. This one has done well, scoring higher than 85% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 329,060 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 178 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.