188 research outputs found
ΠΠΎΠΊΠ°Π»ΡΠ½ΠΎΠ΅ ΠΌΠ°Π³Π½ΠΈΡΠ½ΠΎΠ΅ ΠΏΠΎΠ»Π΅ Π² Π½Π΅ΡΠ΅Π³ΡΠ»ΡΡΠ½ΠΎΠΉ Π²ΠΈΡ ΡΠ΅Π²ΠΎΠΉ ΡΠ΅ΡΠ΅ΡΠΊΠ΅ ΡΠ²Π΅ΡΡ ΠΏΡΠΎΠ²ΠΎΠ΄Π½ΠΈΠΊΠ° II ΡΠΎΠ΄Π°
Π‘ ΠΏΠΎΠΌΠΎΡΡΡ ΠΌΠΎΠ΄ΠΈΡΠΈΡΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠ³ΠΎ ΡΡΠ°Π²Π½Π΅Π½ΠΈΡ ΠΠΎΠ½Π΄ΠΎΠ½ΠΎΠ² Π΄Π»Ρ ΡΠ²Π΅ΡΡ
ΠΏΡΠΎΠ²ΠΎΠ΄Π½ΠΈΠΊΠΎΠ² II ΡΠΎΠ΄Π° Ρ ΠΊΠ°ΠΏΠΏΠ°>>1 (ΠΊΠ°ΠΏΠΏΠ° - ΠΏΠ°ΡΠ°ΠΌΠ΅ΡΡ ΠΠΈΠ½Π·Π±ΡΡΠ³Π°-ΠΠ°Π½Π΄Π°Ρ) Π½Π°ΠΉΠ΄Π΅Π½ΠΎ ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΠ΅ ΠΌΠ°Π³Π½ΠΈΡΠ½ΠΎΠ³ΠΎ ΠΏΠΎΠ»Ρ h(ΡΠΎ,z) ΠΈ ΡΡΠ½ΠΊΡΠΈΡ ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΡ f(h,z,ΡΠΈΠ³ΠΌΠ°) Π΄Π»Ρ ΡΠ΅Π³ΡΠ»ΡΡΠ½ΠΎΠΉ ΠΈ Π½Π΅ΡΠ΅Π³ΡΠ»ΡΡΠ½ΠΎΠΉ ΡΠ΅ΡΠ΅ΡΠΎΠΊ Π²ΠΈΡ
ΡΠ΅ΠΉ ΠΠ±ΡΠΈΠΊΠΎΡΠΎΠ²Π° Π½Π° ΡΠ°Π·Π½ΡΡ
Π³Π»ΡΠ±ΠΈΠ½Π°Ρ
z ΠΎΡ ΠΏΠΎΠ²Π΅ΡΡ
Π½ΠΎΡΡΠΈ ΡΠ²Π΅ΡΡ
ΠΏΡΠΎΠ²ΠΎΠ΄Π½ΠΈΠΊΠ°. ΠΠΎΠΊΠ°Π·Π°Π½ΠΎ, ΡΡΠΎ Π² Π·Π°Π²ΠΈΡΠΈΠΌΠΎΡΡΠΈ ΠΎΡ "ΡΡΠ΅ΠΏΠ΅Π½ΠΈ Π½Π΅ΡΠ΅Π³ΡΠ»ΡΡΠ½ΠΎΡΡΠΈ" Π²ΠΈΡ
ΡΠ΅Π²ΠΎΠΉ ΡΠ΅ΡΠ΅ΡΠΊΠΈ ΡΠ²Π΅ΡΡ
ΠΏΡΠΎΠ²ΠΎΠ΄Π½ΠΈΠΊΠ° Π»ΠΎΠΊΠ°Π»ΡΠ½ΠΎΠ΅ ΠΌΠ°Π³Π½ΠΈΡΠ½ΠΎΠ΅ ΠΏΠΎΠ»Π΅ ΡΡΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎ ΠΈΠ·ΠΌΠ΅Π½ΡΠ΅ΡΡΡ
Interview: Β«Ich war schockiert, als Terminator ein Erfolg wurdeΒ», Interview mit Gale Anne Hurd
Gale Anne Hurd gehoΜrt seit den Achtzigern zu den grossen Namen Hollywoods. Am Locarno Film Festival wird die Produzentin gerade mit dem Β«Premio Raimondo RezzonicoΒ» geehrt β Anlass fuΜr uns, uns mit Hurd uΜber ihre Karriere zu unterhalten
ΠΠΏΡΠΈΠΌΠΈΠ·Π°ΡΠΈΡ Π°ΠΏΠΏΠ°ΡΠ°ΡΡΡΠ½ΠΎΠ³ΠΎ ΠΎΡΠΎΡΠΌΠ»Π΅Π½ΠΈΡ ΠΏΡΠΎΡΠ΅ΡΡΠ° Π΄Π΅Π³ΠΈΠ΄ΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ Π²ΡΡΡΠΈΡ Π°Π»ΠΊΠ°Π½ΠΎΠ² Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΌΠ΅ΡΠΎΠ΄Π° ΠΌΠ°ΡΠ΅ΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΌΠΎΠ΄Π΅Π»ΠΈΡΠΎΠ²Π°Π½ΠΈΡ
ΠΡΠ΅Π΄Π»ΠΎΠΆΠ΅Π½ Π½ΠΎΠ²ΡΠΉ ΡΠΏΠΎΡΠΎΠ± ΠΏΠΎΠ²ΡΡΠ΅Π½ΠΈΡ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΠΈ ΡΠ°Π±ΠΎΡΡ ΡΠ΅Π°ΠΊΡΠΎΡΠ½ΠΎΠ³ΠΎ Π±Π»ΠΎΠΊΠ° Π΄Π΅Π³ΠΈΠ΄ΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΠΏΠ°ΡΠ°ΡΠΈΠ½ΠΎΠ² Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΌΠ°ΡΠ΅ΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΌΠΎΠ΄Π΅Π»ΠΈ, ΡΡΠΈΡΡΠ²Π°ΡΡΠ΅ΠΉ Π²Π·Π°ΠΈΠΌΠ½ΠΎΠ΅ Π²Π»ΠΈΡΠ½ΠΈΠ΅ ΠΏΡΠΎΡΠ΅ΡΡΠΎΠ², ΠΏΡΠΎΡΠ΅ΠΊΠ°ΡΡΠΈΡ
Π² Π°ΠΏΠΏΠ°ΡΠ°ΡΠ°Ρ
Ρ
ΠΈΠΌΠΈΠΊΠΎ-ΡΠ΅Ρ
Π½ΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΠΈΡΡΠ΅ΠΌΡ. ΠΡΠΎΠ²Π΅Π΄Π΅Π½Π° ΡΠΈΡΠ»Π΅Π½Π½Π°Ρ ΠΎΡΠ΅Π½ΠΊΠ° Π²Π»ΠΈΡΠ½ΠΈΡ Ρ
ΠΈΠΌΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΎΡΡΠ°Π²Π° ΡΡΡΡΡ, ΡΠ΅Ρ
Π½ΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ΅ΠΆΠΈΠΌΠΎΠ² ΠΈ ΡΡΠ΅ΠΏΠ΅Π½ΠΈ Π΄Π΅Π·Π°ΠΊΡΠΈΠ²Π°ΡΠΈΠΈ ΠΊΠ°ΡΠ°Π»ΠΈΠ·Π°ΡΠΎΡΠ° Π½Π° ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΡ ΡΠ°Π±ΠΎΡΡ Π°ΠΏΠΏΠ°ΡΠ°ΡΠΎΠ² Ρ
ΠΈΠΌΠΈΠΊΠΎ-ΡΠ΅Ρ
Π½ΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΡ
Π΅ΠΌΡ ΠΏΡΠΎΠΌΡΡΠ»Π΅Π½Π½ΠΎΠΉ ΡΡΡΠ°Π½ΠΎΠ²ΠΊΠΈ Π΄Π΅Π³ΠΈΠ΄ΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ
Applications and data analysis of next-generation sequencing
Over the past 6 years, next-generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry, and data analysis need to be overcome. Each workflow and sequencing platform have their particular problems and caveats, which need to be addressed. Regarding NGS, there is a variety of different enrichment methods, sequencing devices, or technologies as well as a multitude of analyzing software products available. In this manuscript, the authors focus on challenges in data analysis when employing different target enrichment methods and the best applications for each of the
Diagnostic applications of next generation sequencing: working towards quality standards
Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major NGS technology companies providing commercially available instruments (Roche 454, Illumina, Life Technologies) have recently marketed bench top sequencing instruments with lower throughput and shorter run times, thereby broadening the applications of NGS and opening the technology to the potential use for clinical diagnostics. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry and data analysis need to be overcome. To facilitate the implementation of NGS as a routine method in molecular diagnostics, consistent quality standards need to be developed. Here the authors give an overview of the current standards in protocols and workflows and discuss possible approaches to define quality criteria for NGS in molecular genetic diagnostics
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories
BackgroundEpilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom. The exact molecular diagnosis is essential to determine prognosis, comorbidity, and probability of recurrence, and to inform therapeutic decisions.Methods and materialsHere, we describe a prospective cohort study of patients with epilepsy evaluated in seven diagnostic outpatient centers in Germany. Over a period of 2 months, 07/2022 through 08/2022, 304 patients (317 returned result) with seizure-related human phenotype ontology (HPO) were analyzed. Evaluated data included molecular results, phenotype (syndromic and non-syndromic), and sequencing methods.ResultsSingle exome sequencing (SE) was applied in half of all patients, followed by panel (P) testing (36%) and trio exome sequencing (TE) (14%). Overall, a pathogenic variant (PV) (ACMG cl. 4/5) was identified in 22%; furthermore, a significant number of patients (12%) carried a reported clinically meaningful variant of unknown significance (VUS). The average diagnostic yield in patients β€ 12 y was higher compared to patients >12 y cf. Figure 2B vs. Figure 3B. This effect was more pronounced in cases, where TE was applied in patients β€ 12 vs. >12 y [PV (PV + VUS): patients β€ 12 y: 35% (47%), patients > 12 y: 20% (40%)]. The highest diagnostic yield was achieved by TE in syndromic patients within the age group β€ 12 y (ACMG classes 4/5 40%). In addition, TE vs. SE had a tendency to result in less VUS in patients β€ 12 y [SE: 19% (22/117) VUS; TE: 17% (6/36) VUS] but not in patients >12 y [SE: 19% (8/42) VUS; TE: 20% (2/10) VUS]. Finally, diagnostic findings in patients with syndromic vs. non-syndromic symptoms revealed a significant overlap of frequent causes of monogenic epilepsies, including SCN1A, CACNA1A, and SETD1B, confirming the heterogeneity of the associated conditions.ConclusionIn patients with seizuresβregardless of the detailed phenotypeβa monogenic cause can be frequently identified, often implying a possible change in therapeutic action (36.7% (37/109) of PV/VUS variants); this justifies early and broad application of genetic testing. Our data suggest that the diagnostic yield is highest in exome or trio-exome-based testing, resulting in a molecular diagnosis within 3 weeks, with profound implications for therapeutic strategies and for counseling families and patients regarding prognosis and recurrence risk
SNAPSHOT USA 2019 : a coordinated national camera trap survey of the United States
This article is protected by copyright. All rights reserved.With the accelerating pace of global change, it is imperative that we obtain rapid inventories of the status and distribution of wildlife for ecological inferences and conservation planning. To address this challenge, we launched the SNAPSHOT USA project, a collaborative survey of terrestrial wildlife populations using camera traps across the United States. For our first annual survey, we compiled data across all 50 states during a 14-week period (17 August - 24 November of 2019). We sampled wildlife at 1509 camera trap sites from 110 camera trap arrays covering 12 different ecoregions across four development zones. This effort resulted in 166,036 unique detections of 83 species of mammals and 17 species of birds. All images were processed through the Smithsonian's eMammal camera trap data repository and included an expert review phase to ensure taxonomic accuracy of data, resulting in each picture being reviewed at least twice. The results represent a timely and standardized camera trap survey of the USA. All of the 2019 survey data are made available herein. We are currently repeating surveys in fall 2020, opening up the opportunity to other institutions and cooperators to expand coverage of all the urban-wild gradients and ecophysiographic regions of the country. Future data will be available as the database is updated at eMammal.si.edu/snapshot-usa, as well as future data paper submissions. These data will be useful for local and macroecological research including the examination of community assembly, effects of environmental and anthropogenic landscape variables, effects of fragmentation and extinction debt dynamics, as well as species-specific population dynamics and conservation action plans. There are no copyright restrictions; please cite this paper when using the data for publication.Publisher PDFPeer reviewe
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