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Chapter title |
Genomic Strategies in Mitochondrial Diagnostics.
|
---|---|
Chapter number | 27 |
Book title |
Mitochondrial DNA
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Published in |
Methods in molecular biology, January 2023
|
DOI | 10.1007/978-1-0716-2922-2_27 |
Pubmed ID | |
Book ISBNs |
978-1-07-162921-5, 978-1-07-162922-2
|
Authors |
Deen, Dasha, Alston, Charlotte L, Hudson, Gavin, Taylor, Robert W, Pyle, Angela, Alston, Charlotte L., Taylor, Robert W. |
Abstract |
Pathogenic variants in both mitochondrial and nuclear genes contribute to the clinical and genetic heterogeneity of mitochondrial diseases. There are now pathogenic variants in over 300 nuclear genes linked to human mitochondrial diseases. Nonetheless, diagnosing mitochondrial disease with a genetic outcome remains challenging. However, there are now many strategies that help us to pinpoint causative variants in patients with mitochondrial disease. This chapter describes some of the approaches and recent advancements in gene/variant prioritization using whole-exome sequencing (WES). |
X Demographics
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Geographical breakdown
Country | Count | As % |
---|---|---|
Australia | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 23 February 2023.
All research outputs
#20,807,832
of 23,415,749 outputs
Outputs from Methods in molecular biology
#10,113
of 13,324 outputs
Outputs of similar age
#339,799
of 429,922 outputs
Outputs of similar age from Methods in molecular biology
#314
of 408 outputs
Altmetric has tracked 23,415,749 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 13,324 research outputs from this source. They receive a mean Attention Score of 3.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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 429,922 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 408 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.