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Emily Olfson Catherine E. Cottrell Nicholas O. Davidson Christina A. Gurnett Jonathan W. Heusel Nathan O. Stitziel Li-Shiun Chen Sarah Hartz Rakesh Nagarajan Nancy L. Saccone Laura J. Bierut 《PloS one》2015,10(9)
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing reference sample. Candidate variants in the 56 ACMG genes were selected from Phase 1 of the 1000 Genomes dataset, which contains sequencing information on 1,092 unrelated individuals from across the world. These variants were filtered using the Human Gene Mutation Database (HGMD) Professional version and defined parameters, appraised through literature review, and examined by a clinical laboratory specialist and expert physician. Over 70,000 genetic variants were extracted from the 56 genes, and filtering identified 237 variants annotated as disease causing by HGMD Professional. Literature review and expert evaluation determined that 7 of these variants were pathogenic or likely pathogenic. Furthermore, 5 additional truncating variants not listed as disease causing in HGMD Professional were identified as likely pathogenic. These 12 secondary findings are associated with diseases that could inform medical follow-up, including cancer predisposition syndromes, cardiac conditions, and familial hypercholesterolemia. The majority of the identified medically actionable findings were in individuals from the European (5/379) and Americas (4/181) ancestry groups, with fewer findings in Asian (2/286) and African (1/246) ancestry groups. Our results suggest that medically relevant secondary findings can be identified in approximately 1% (12/1092) of individuals in a diverse reference sample. As clinical sequencing laboratories continue to implement the ACMG recommendations, our results highlight that at least a small number of potentially important secondary findings can be selected for return. Our results also confirm that understudied populations will not reap proportionate benefits of genomic medicine, highlighting the need for continued research efforts on genetic diseases in these populations. 相似文献
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Nathan D. Mathewson Orr Ashenberg Itay Tirosh Simon Gritsch Elizabeth M. Perez Sascha Marx Livnat Jerby-Arnon Rony Chanoch-Myers Toshiro Hara Alyssa R. Richman Yoshinaga Ito Jason Pyrdol Mirco Friedrich Kathrin Schumann Michael J. Poitras Prafulla C. Gokhale L. Nicolas Gonzalez Castro Marni E. Shore Kai W. Wucherpfennig 《Cell》2021,184(5):1281-1298.e26
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Zizhen Yao Cindy T.J. van Velthoven Thuc Nghi Nguyen Jeff Goldy Adriana E. Sedeno-Cortes Fahimeh Baftizadeh Darren Bertagnolli Tamara Casper Megan Chiang Kirsten Crichton Song-Lin Ding Olivia Fong Emma Garren Alexandra Glandon Nathan W. Gouwens James Gray Lucas T. Graybuck Michael J. Hawrylycz Hongkui Zeng 《Cell》2021,184(12):3222-3241.e26
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Ernest I. Onyishi Piotr Sorokowski Agnieszka Sorokowska R. Nathan Pipitone 《Evolution and human behavior》2012,33(6):771-774
Previous research has demonstrated that having more children decreases marital satisfaction among parents. However, the universality of these findings is limited since the vast majority of the studies have been conducted in Western countries. In the present study, 374 people from the Igbo ethnic group (Nigeria) were assessed for levels of marital satisfaction and the number of children. In contrast to almost all previous findings, we found a positive relationship between the number of children and marital satisfaction among parents. Number of children was the strongest predictor of marital satisfaction even when compared to other variables like wealth and education. Our results suggest that the negative relationship between the number of children and marital satisfaction is not culturally universal and probably only characterizes developed, individualistic Western countries. We discuss our findings from a sociocultural and evolutionary perspective. 相似文献
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Paclobutrazol, triapenthenol (RSW0411), and BAS111 were applied to 4-week-old Delicious apple seedlings (Malus domestica Borkh.) as a root drench at 0.1, 1.0, and 10.0 mg per plant. Paclobutrazol eliminated shoot extension growth for 8 weeks
at all three rates. RSW0411 controlled shoot elongation only at the highest rate. BAS111 produced the widest response, with
shoot growth ranging from 38% to 93% of controls for the highest and lowest rates, respectively. Generally, leaf area decreased
and leaf density increased with increasing rates of all chemicals. Root weight of plants treated with paclobutrazol nearly
doubled but increased only slightly with RSW0411 and BAS111. Chemical analysis of the leaf tissue 8 weeks after treatment
showed paclobutrazol levels highest, followed by RSW0411 and BAS111.
Mention of a trademark, proprietary product, or vendor does not constitute a guarantee or warranty of the product by the U.S.
Department of Agriculture and does not imply its approval to the exclusion of other products that may also be suitable. 相似文献
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