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| Title |
The origins and functional effects of postzygotic mutations throughout the human life span
|
|---|---|
| Published in |
Science, April 2023
|
| DOI | 10.1126/science.abn7113 |
| Pubmed ID | |
| Authors |
Nicole B Rockweiler, Avinash Ramu, Liina Nagirnaja, Wing H Wong, Michiel J Noordam, Casey W Drubin, Ni Huang, Brian Miller, Ellen Z Todres, Katinka A Vigh-Conrad, Antonino Zito, Kerrin S Small, Kristin G Ardlie, Barak A Cohen, Donald F Conrad |
| Abstract |
Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health remain unclear. To study the origins and functional consequences of PZMs, we generated a multitissue atlas of PZMs spanning 54 tissue and cell types from 948 donors. Nearly half the variation in mutation burden among tissue samples can be explained by measured technical and biological effects, and 9% can be attributed to donor-specific effects. Through phylogenetic reconstruction of PZMs, we found that their type and predicted functional impact vary during prenatal development, across tissues, and through the germ cell life cycle. Thus, methods for interpreting effects across the body and the life span are needed to fully understand the consequences of genetic variants. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 12 | 13% |
| China | 2 | 2% |
| Indonesia | 1 | 1% |
| France | 1 | 1% |
| Belgium | 1 | 1% |
| United Kingdom | 1 | 1% |
| Unknown | 77 | 81% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 43 | 45% |
| Scientists | 42 | 44% |
| Practitioners (doctors, other healthcare professionals) | 6 | 6% |
| Science communicators (journalists, bloggers, editors) | 4 | 4% |
Mendeley readers
The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 66 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 14 | 21% |
| Student > Ph. D. Student | 13 | 20% |
| Student > Master | 6 | 9% |
| Student > Bachelor | 4 | 6% |
| Professor > Associate Professor | 4 | 6% |
| Other | 9 | 14% |
| Unknown | 16 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 28 | 42% |
| Agricultural and Biological Sciences | 8 | 12% |
| Medicine and Dentistry | 5 | 8% |
| Computer Science | 2 | 3% |
| Neuroscience | 2 | 3% |
| Other | 2 | 3% |
| Unknown | 19 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 294. 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 16 December 2023.
All research outputs
#123,833
of 26,134,677 outputs
Outputs from Science
#3,914
of 83,660 outputs
Outputs of similar age
#3,150
of 424,732 outputs
Outputs of similar age from Science
#84
of 401 outputs
Altmetric has tracked 26,134,677 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 83,660 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 66.4. This one has done particularly well, scoring higher than 95% 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 424,732 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 99% of its contemporaries.
We're also able to compare this research output to 401 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 79% of its contemporaries.