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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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Eight embryonic thresher sharks Alopias vulpinus (53·9–124 cm total length) were collected from two females caught by commercial longline off southern Brazil in September and November 2004. Morphometric measurements are provided. 相似文献
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Emily L. Germain John W. Littlefield 《In vitro cellular & developmental biology. Plant》1986,22(2):107-112
Summary Stem cells of the embryonal carcinoma cell line called H6 can be induced to differnetiate to endoderm-like cells by retinoic
acid (3×10−6
M). We have detected a diffusible and stable factor which is secreted by H6 endoderm-like cells and stimulates the growth of
H6 stem cells. The stimulation by the endoderm-like cells is considereably greater than that by mouse fibroblasts or H6 stem
cells themselves. No reciprocal stimulation of endoderm-like cells by stem cells occurs. Part but not all of the stimulation
might be due to extracellular matrix proteins or to insulin-like growth factor type 2, each of which also stimulates the growth
of H6 stem cells. Insulin causes no such stimulation.
This work was supported by research rant no. CA-16754 from the National Cancer Institute to J. W. L. E. L. G. was supported
by an American Heart Association Medical Student Research Award.
Editor's Statement This paper presents a good example of cooperativity between undifferentiated teratoma stem cells and differentiated
parietal endoderm-derived countrparts in terms of growth support. It raises the interesting question of the relationship between
factors produced by paprietal and visceral endoderm cells. Gordon H. Sato 相似文献
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Sicyos motozintlensis is described from the vicinity of Motozintla de Mendoza, Chiapas. It shows a strong similarity toS. chiriquensis Hammel & D’Arcy from Panama. 相似文献
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Linkage analyses of human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B) 总被引:1,自引:0,他引:1
Summary Linkage data on human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B) are presented. The results confirm linkage between HF and F13B (lod=5.32 at =0.10 in males), and give strong evidence for linkage between PEPC and HF (lod=5.14 at =0.10 in males) and between PEPC and F13B (lod=3.55 at =0.10 in males). The claim that PEPA is linked with HF must be withdrawn. 相似文献