| 1. |
|
|
| 2. |
- Chase, A., et al.
(författare)
-
Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- 2015
-
Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
-
Tidskriftsartikel (refereegranskat)abstract
- Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
|
|
| 3. |
- Antichi, Gianni, et al.
(författare)
-
ENDEAVOUR : A Scalable SDN Architecture For Real-World IXPs
- 2017
-
Ingår i: IEEE Journal on Selected Areas in Communications. - : Institute of Electrical and Electronics Engineers (IEEE). - 0733-8716 .- 1558-0008. ; 35:11, s. 2553-2562
-
Tidskriftsartikel (refereegranskat)abstract
- Innovation in interdomain routing has remained stagnant for over a decade. Recently, Internet eXchange Points (IXPs) have emerged as economically-advantageous interconnection points for reducing path latencies and exchanging ever increasing traffic volumes among, possibly, hundreds of networks. Given their far-reaching implications on interdomain routing, IXPs are the ideal place to foster network innovation and extend the benefits of software defined networking (SDN) to the interdomain level. In this paper, we present, evaluate, and demonstrate ENDEAVOUR, an SDN platform for IXPs. ENDEAVOUR can be deployed on a multi-hop IXP fabric, supports a large number of use cases, and is highly scalable, while avoiding broadcast storms. Our evaluation with real data from one of the largest IXPs, demonstrates the benefits and scalability of our solution: ENDEAVOUR requires around 70% fewer rules than alternative SDN solutions thanks to our rule partitioning mechanism. In addition, by providing an open source solution, we invite everyone from the community to experiment (and improve) our implementation as well as adapt it to new use cases.
|
|
| 4. |
- Spitalnik, Steven L, et al.
(författare)
-
2015 proceedings of the National Heart, Lung, and Blood Institute's State of the Science in Transfusion Medicine symposium
- 2015
-
Ingår i: Transfusion. - : Wiley. - 1537-2995 .- 0041-1132. ; 55:9, s. 90-2282
-
Forskningsöversikt (refereegranskat)abstract
- On March 25 and 26, 2015, the National Heart, Lung, and Blood Institute sponsored a meeting on the State of the Science in Transfusion Medicine on the National Institutes of Health (NIH) campus in Bethesda, Maryland, which was attended by a diverse group of 330 registrants. The meeting's goal was to identify important research questions that could be answered in the next 5 to 10 years and which would have the potential to transform the clinical practice of transfusion medicine. These questions could be addressed by basic, translational, and/or clinical research studies and were focused on four areas: the three "classical" transfusion products (i.e., red blood cells, platelets, and plasma) and blood donor issues. Before the meeting, four working groups, one for each area, prepared five major questions for discussion along with a list of five to 10 additional questions for consideration. At the meeting itself, all of these questions, and others, were discussed in keynote lectures, small-group breakout sessions, and large-group sessions with open discourse involving all meeting attendees. In addition to the final lists of questions, provided herein, the meeting attendees identified multiple overarching, cross-cutting themes that addressed issues common to all four areas; the latter are also provided. It is anticipated that addressing these scientific priorities, with careful attention to the overarching themes, will inform funding priorities developed by the NIH and provide a solid research platform for transforming the future practice of transfusion medicine.
|
|
| 5. |
|
|
| 6. |
|
|
