| Title |
A curated gene list for reporting results of newborn genomic sequencing
|
|---|---|
| Published in |
Genetics in Medicine, January 2017
|
| DOI | 10.1038/gim.2016.193 |
| Pubmed ID | |
| Authors |
Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S. Lebo, Tim W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm |
| Abstract |
Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately. To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence. Based on these attributes, we classified genes to guide the return of results in the BabySeq Project, a randomized, controlled trial exploring the use of newborn GS (nGS), and used our curated list for the first 15 newborns sequenced in this project. Here, we present our curated list for 1,514 gene-disease associations. Overall, 954 genes met our criteria for return in nGS. This reference list eliminated manual assessment for 41% of rare variants identified in 15 newborns. Our list provides a resource that can assist in guiding the interpretive scope of clinical GS for newborns and potentially other populations.Genet Med advance online publication 12 January 2017Genetics in Medicine (2017); doi:10.1038/gim.2016.193. |
X Demographics
The data shown below were collected from the profiles of 98 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 | 34 | 35% |
| United Kingdom | 10 | 10% |
| Canada | 3 | 3% |
| Spain | 3 | 3% |
| Colombia | 2 | 2% |
| Netherlands | 2 | 2% |
| Germany | 2 | 2% |
| Australia | 2 | 2% |
| Italy | 2 | 2% |
| Other | 6 | 6% |
| Unknown | 32 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 52 | 53% |
| Scientists | 40 | 41% |
| Science communicators (journalists, bloggers, editors) | 3 | 3% |
| Practitioners (doctors, other healthcare professionals) | 3 | 3% |
Mendeley readers
The data shown below were compiled from readership statistics for 119 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | <1% |
| Argentina | 1 | <1% |
| Unknown | 117 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 23 | 19% |
| Other | 20 | 17% |
| Student > Ph. D. Student | 10 | 8% |
| Student > Master | 10 | 8% |
| Student > Postgraduate | 6 | 5% |
| Other | 18 | 15% |
| Unknown | 32 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 32 | 27% |
| Medicine and Dentistry | 24 | 20% |
| Agricultural and Biological Sciences | 15 | 13% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 2% |
| Nursing and Health Professions | 2 | 2% |
| Other | 7 | 6% |
| Unknown | 37 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 142. 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 07 December 2019.
All research outputs
#296,849
of 25,728,350 outputs
Outputs from Genetics in Medicine
#47
of 2,957 outputs
Outputs of similar age
#6,251
of 425,776 outputs
Outputs of similar age from Genetics in Medicine
#3
of 41 outputs
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