Climate change is an issue of growing economic, social, and political concern. Continued rise in the average temperatures of the Earth could lead to drastic climate change or an increased frequency of extreme events, which would negatively affect agriculture, population, and global health. One way of studying the dynamics of the Earth's changing climate is by attempting to identify regions that exhibit similar climatic behavior in terms of long-term variability. Climate networks have emerged as a strong analytics framework for both descriptive analysis and predictive modeling of the emergent phenomena. Previously, the networks were constructed using only one measure of similarity, namely the (linear) Pearson cross correlation, and were then clustered using a community detection algorithm. However, nonlinear dependencies are known to exist in climate, which begs the question whether more complex correlation measures are able to capture any such relationships. In this paper, we present a systematic study of different univariate measures of similarity and compare how each affects both the network structure as well as the predictive power of the clusters.


The Kalol Field in the Cambay Basin of India was discovered in 1961 and has been producing through more than 608 wells from Kalol reservoirs but the cumulative production up until 2008 was only 95.19 MMbbl. Reasons for low recovery have been ascribed to poor reservoir facies and limited reservoir thicknesses. In the Kalol Field, several thin clastic reservoirs are sandwiched within the main reservoir and exhibit lateral variations in lithology. Attribute-based inversion (ABI) is effective at delineating potentially prospective areas and reveals the existence of a good reservoir facies cluster in the south, SE and NW corners of our study area, near the Kalol Field. However, this method cannot decipher the depositional setting or the finer details of facies elements. To obtain a smooth and fine-tuned facies model, geostatistical modelling is adopted taking the ABI output (seismic-facies model) as the initial model. The advantage of geostatistical modelling is that it always honours the input data and respects the positional variograms of the geology. Adding spectral decomposition with red–green–blue (SD-RGB) colour blending reveals the existence of a meandering river in the study area. This river is interpreted to have deposited crevasse splays and channel facies along the river banks. These two facies are the main producing contributors to a well that has maintained a higher production than any other well in this field. This facies-based approach is also effective in determining the reservoir geometry and quality consistent with the interpretation of the depositional environment. In ABI, 3D attribute volumes of petrophysical properties are calculated using a genetic algorithm inversion and artificial neural network using a non-linear correlation between seismic and log properties. The calculated 3D attribute volumes of petrophysical properties are subsequently utilized for seismic facies classification. In contrast to ABI, SD-RGB colour blending has been solely utilized for co-visualization of different band-limited amplitude volumes from spectral decomposition. Conventional seismic inversion has now been replaced by an integrated approach combining ABI, geostatistical modelling and SD-RGB colour blending in an effort to delineate the remaining potential of the field, and to improve the geological success and ultimate recovery.


This thesis tests the hypothesis by Kandel (1975) that there is a specific sequence of drug use that users follow. Using the same scalogram analysis technique utilized by Kandel in her original Gateway Hypothesis study, a distinct sequence of use was discovered. This thesis is based on the National Survey on Drug Use and Health (2005). This study confirmed Kandel's earlier findings in that this study determined that there is a sequence of drug use. The current study also confirms Kandel's position that licit drugs precede the use of illicit drugs. This study's findings differ from those of Kandel, however, in that tobacco and not alcohol was found to be the first drug of experimentation. In the current study, the data were divided into two age cohorts to determine if changing the legal drinking age had any impact on sequencing. Findings indicate that the change in the legal drinking age had no effect on sequences of drug use. Binomial logistic regression analysis results support the scalogram analysis findings, resulting in the rejection of the null hypotheses that there is no sequence to drug use, that the sequence is tobacco, alcohol, marijuana, hard drugs, and that the change in the legal drinking age would affect sequencing for those respondents who could not drink legally until the age of 21.


The recovery of two notarial documents prepared in Ferrara on behalf of Josquin Desprez soon after his arrival in that city in the spring of 1503 demonstrates his intentions at that time to obtain the provosty
 of Notre Dame of Condee and reveals the complicated exchange of benefices that brought about that result. The documents name Loyset Compeere and Pierre Duwez as respondents to Desprez in a quadrangular
 exchange of positions. In this transaction Josquin appointed the dean of the chapter of Condee to resign the benefice he held in the collegiate church of Saint-Quentin. Since this was a position over
 which the King of France enjoyed full legal rights of collation, Josquin ordered the position to be surrendered to that monarch or his confessor, rather than to the pope. Accordingly these documents provide
 a very strong indication that Louis XII of France was the composer9s patron before he came to Ferrara and that the king approved of this benefice exchange. In light of these implications, aspects of
 the composer9s career before and after his Ferrarese service are reconsidered, including occasions on which he composed works for patrons in the French and imperial networks, such as Margaret of Austria,
 and his collaboration with the poet Jean Lemaire de Belges. Repertoire from Josquin9s year in Ferrara is discussed, along with the Hercules Mass. Sections of his setting of the psalm Miserere mei deus are
 commented on, in connection both to a Biblical passage concordant with a verse of the psalm and to remarks by the theorist Glareanus. The expressive qualities of the Miserere are related to the devotional
 and ceremonial of duke Ercole, especially in the context of the outbreak of the plague in Ferrara.


OBJECTIVE To describe the cross-sectional relation between glycemic control and physical symptoms, emotional well-being, and general well-being in patients with type II diabetes. RESEARCH DESIGN AND METHODS The study population consisted of 188 patients with type II diabetes between 40 and 75 years of age. Patients were treated with blood glucose-lowering agents or had either a fasting venous plasma glucose level ≥7.8 mmol/l or an HbA1c level > 6.1%. Multiple regression analyses were performed. Dependent variables were scores on the Type II Diabetes Symptom Checklist, the Profile of Mood States, the Affect Balance Scale, and questions regarding general well-being. The primary determinant under study was HbA1c. In addition, age, sex, neuroticism (indicating a general tendency to complain), insulin use, and comorbidity were included as determinants in all analyses. Other potential determinants taken into consideration were hypoglycemic complaints, marital status, diabetes duration, cardiovascular history, blood pressure, BMI, waist-to-hip ratio, perceived burden of treatment, and smoking. None of these potential determinants had to be included to correct confounding of the relation between HbA1c and well-being scores. RESULTS Higher HbA1c levels were significantly associated with higher symptom scores (total score, hyperglycemic score, and neuropathic score), with worse mood (total score, displeasure score, depression, tension, fatigue), and with worse general well-being. The relative risks varied between 1.02 and 1.36 for each percentage difference in HbA1c. The relation between HbA1c and some mood states was modified by neuroticism: in the less neurotic patient (i.e., one who is less inclined to complain), the relation was more evident. CONCLUSIONS These data suggest that better glycemic control in type II diabetes is associated with fewer physical symptoms, better mood, and better well-being, in a nonhypoglycemic HbA1c range.


Deep neural networks (DNNs) have recently been applied successfully to brain decoding and image reconstruction from functional magnetic resonance imaging (fMRI) activity. However, direct training of a DNN with fMRI data is often avoided because the size of available data is thought to be insufficient to train a complex network with numerous parameters. Instead, a pre-trained DNN has served as a proxy for hierarchical visual representations, and fMRI data were used to decode individual DNN features of a stimulus image using a simple linear model, which were then passed to a reconstruction module. Here, we present our attempt to directly train a DNN model with fMRI data and the corresponding stimulus images to build an end-to-end reconstruction model. We trained a generative adversarial network with an additional loss term defined in a high-level feature space (feature loss) using up to 6,000 training data points (natural images and the fMRI responses). The trained deep generator network was tested on an independent dataset, directly producing a reconstructed image given an fMRI pattern as the input. The reconstructions obtained from the proposed method showed resemblance with both natural and artificial test stimuli. The accuracy increased as a function of the training data size, though not outperforming the decoded feature-based method with the available data size. Ablation analyses indicated that the feature loss played a critical role to achieve accurate reconstruction. Our results suggest a potential for the end-to-end framework to learn a direct mapping between brain activity and perception given even larger datasets.


ABSTRACT Turkey has experienced consecutive financial crises in 2000 and 2001. The crisis of 2001 was particularly far-reaching in terms of its impact, resulting in a major collapse of output and employment. It was also quite distinct in terms of its income distributional consequences in the sense that not only the wage earners, but all sections of society at varying degrees encountered its negative consequences. The crisis also provided an avenue for a new wave of neo-liberal restructuring with a major emphasis on regulatory reforms. Turkey's political economy in the post-2001 era is investigated on the basis of four key inter-related elements: the impact of the IMF and the World Bank; the restructuring of the state's relationship with the domestic financial sector especially through regulatory reforms; the opening up of Turkey to foreign direct investment; and the adoption of a wide range of reforms modelled on the European Union, in line with the goal of entry into the EU. Indeed, the regional context associated with EU conditionality has provided the political focus of the process as a whole. A key hypothesis is that Turkey continues to be vulnerable in spite of the fact that the banking sector is much more tightly regulated in line with international norms during the post-crisis era.


Background People with severe mental illness often have a complex mixture of clinical and social needs. The Camberwell Assessment of Need (CAN) is a new instrument which has been designed to provide a comprehensive assessment of these needs. There are two versions of the instrument: the clinical version has been designed to be used by staff to plan patients' care; whereas the research version is primarily a mental health service evaluation tool. The CAN has been designed to assist local authorities to fulfil their statutory obligations under the National Health Service and Community Care Act 1990 to assess needs for community services. Method A draft version of the instrument was designed by the authors. Modifications were made following comments from mental health experts and a patient survey. Patients (n = 49) and staff (n = 60) were then interviewed, using the amended version, to assess the inter-rater and test-retest reliability of the instrument. Results The mean number of needs identified per patient ranged from 7.55 to 8.64. Correlations of the inter-rater and test-retest reliability of the total number of needs identified by staff were 0.99 and 0.78 respectively. The percentage of complete agreement on individual items ranged from 100–81.6% (inter-rater) and 100–58.1% (test-retest). Conclusions The study suggests that the CAN is a valid and reliable instrument for assessing the needs of people with severe mental illness. It is easily learnt by staff from a range of professional backgrounds, and a complete assessment took, on average, around 25 minutes.


Fluid-phase stability relations combined with thermodynamic modeling using fluid-inclusion analyses and new gold-solubility experiments lead to an integrated geological interpretation linking epithermal gold mineralization and porphyry-style ore formation to the cooling of hydrous magma chambers. The essential chemical requirement for gold transport to low temperatures is an initial excess of sulfide over Fe in the magmatic fluid, which is best achieved by condensing out Fe-rich brine from a buoyant, low- to medium-salinity vapor enriched in volatile S. This vapor can contract directly to an aqueous liquid, by cooling at elevated pressure above the critical curve of the salt-water fluid system. Physical and chemical conditions are matched when magmatic fluid is released through a gradually downward-retracting interface of crystallizing magma beneath a porphyry stock, predicting the consistent zoning and overprinting relations of alteration and mineralization observed in magmatic hydrothermal systems.


Sight & Sound's #1 Film Book of 2020
 Chinatown is the Holy Grail of 1970s cinema. Its ending is the most notorious in American film and its closing line of dialogue the most haunting. Here for the first time is the incredible true story of its making. In Sam Wasson's telling, it becomes the defining story of its most colorful characters. Here is Jack Nicholson at the height of his powers, embarking on his great, doomed love affair with Anjelica Huston. Here is director Roman Polanski, both predator and prey, haunted by the savage murder of his wife, returning to Los Angeles, where the seeds of his own self-destruction are quickly planted. Here is the fevered deal-making of 'The Kid' Robert Evans, the most consummate of producers. Here too is Robert Towne's fabled script, widely considered the greatest original screenplay ever written. Wasson for the first time peels off layers of myth to provide the true account of its creation. Looming over the story of this classic movie is the imminent eclipse of the '70s filmmaker-friendly studios as they gave way to the corporate Hollywood we know today.


"When in Rome do as the Romans do" – this hundreds years old proverb is still very actual today. Even more, nowadays you don't even have to go to Rome to feel cultural differences. The communication technology have changed the world economy, thousands of people work now for multinational companies, interacting daily not just with a culture, but possibly with as much as 5 or 6 different ones. Some teams even work in different geographical locations communicating exclusively by electronic means. Today's managers just have to deal with culture whether they like it or not, but the whole employee-manager relationship may be turned upside down on another side of the globe. So what should we do and what do we do about it? Ho do we manage effectively? These are the questions that this study aims to answer at. The main research objects of this study are rather small software engineering teams and companies that are working in cross-cultural environment, but do have little or no special company policies and other formal ways to manage cultural differences. Yet we found out that managers develop there own understanding of cultural issues and are practicing different methods to deal with them.


This paper analyses the efficiency consequences of the introduction of contract marketing. It interprets contracts as a means for extending the use of information and increasing the efficiency of its transmission. It is shown that the present system, based on spot markets, falls short of the ideal in which the marginal value product of informational resources equals their marginal cost, marginal cost being the least technically possible. Contracting reduces this disparity and in so doing improves short and long run resource allocation, accelerates innovation, diminishes overhead costs and enhances the efficiency of obtaining information.


This study assessed the protective efficacy of oral vaccination with 2 experimental attenuated Salmonella Typhimurium-vectored vaccines for necrotic enteritis in protecting chickens against intestinal colonization by common serovars of Salmonella belonging to the 4 major serogroups affecting chickens. Birds were vaccinated orally with 1 × 10⁸ colony-forming units (CFU) of 1 of the vaccine strains χ9241 and χ9352, which express a plasmid-encoded partial recombinant hypothetical protein gene (tHP) of Clostridium perfringens, at days 1 and 7 of age, and then were challenged at 14 d of age with 10⁶ CFU of Salmonella serovars Anatum, Enteritidis, Heidelberg, Kentucky, or Typhimurium (representative serovars of serogroups B, C, D, and E). Birds were necropsied at 4 wk of age, and samples were collected to determine reduction in tissue and intestinal colonization. The chickens vaccinated with χ9241-tHP showed reduced colonization by Salmonella Enteritidis (serogroup D) and by Salmonella Heidelberg and Salmonella Typhimurium (serogroup B) compared with the control birds. No reduction in colonization was observed in the chickens vaccinated with χ9352-tHP. There was an association between the efficacy of these vaccine strains in protecting against necrotic enteritis, assessed on an earlier occasion, and their efficacy in protecting against Salmonella colonization. Thus, the choice of an attenuated Salmonella Typhimurium vaccine vector for delivery of heterologous antigens to chickens should be based partly on the vaccine's value in protecting against colonization by serovars within serogroups B and D. Such vectors would have the additional benefit of reducing colonization of important Salmonella serovars.


Quality competition between alternative providers is an increasingly important topic in the health economics literature. This literature includes theoretical and empirical studies that have been developed in parallel to 21st-century policies to increase competition between doctors or hospitals. Theoretical studies have clarified how competitive markets can give healthcare providers the incentive to improve quality. Broadly speaking, if providers have an incentive to attract more patients and patients value quality, providers will raise quality until the costs of raising quality are equal to the additional revenue from patients attracted by the rise in quality. The theoretical literature has also investigated how institutional and policy parameters determine quality levels in equilibrium. Important parameters in models of quality competition include the degree of horizontal differentiation, the level of information about provider quality, the costs of switching between providers, and the time-horizon of quality investment decisions.
 Empirical studies have focused on the prerequisites of quality competition (e.g., do patients choose higher quality providers?) and the impact of pro-competition policies on quality levels. The most influential studies have used modern econometric approaches, including difference-in differences and instrumental variables, to identify plausibly causal effects. The evidence suggests that in most contexts, quality is a determinant of patient choice of provider, especially after greater patient choice is made available or information is published about provider quality.
 The evidence that increases in competition improve quality in healthcare is less clear cut. Perhaps reflecting the economic theory of quality competition, showing that different parameter combinations or assumptions can produce different outcomes, empirical results are also mixed. While a series of high-quality studies in the United Kingdom appear to show strong improvements in quality in more competitive areas following pro-competition reforms introducing more choice and competition, other studies showed that these quality improvements do not extend to all types of healthcare or alternative measures of quality.
 The most promising areas for future research include investigating the "black box" of quality improvement under competition, and behavioral studies investigating financial and nonfinancial motivations for quality improvements in competitive markets.


It has long been recognised that there is an association between allergic inflammation in the upper airway (that is, allergic rhinitis) and in the lower airway (that is, allergic bronchitis or asthma). Indeed, up to 40% of patients with asthma have allergic rhinitis and vice versa.1 Both conditions have similar immunological mechanisms and underlying pathogenesis2 3 and, since one will affect the other, neither condition should be treated in isolation.

Many theories have been postulated as to the link between allergic rhinitis and asthma. Given that the upper and lower airways do, after all, have the same epithelial lining, it is perhaps hardly surprising that each shows similar reactions to inhalant allergens and irritants. Another important factor is that patients with a blocked nose breathe through their mouth and consequently lose the air conditioning effect of normal nose breathing. Mouth breathing is normal only during speech and exercise. Asthmatic patients who mouth breathe are therefore exposing their tracheobronchial tree to cold dehumidified air which may aggravate bronchial hyperresponsiveness.

The link between upper airway inflammation and asthma is not just confined to allergic rhinitis. Patients with nasal polyps are often non-atopic but commonly have associated asthma. Nasal polyposis, for example, occurs in 1% of the population but its frequency in patients with intrinsic asthma is 13% and in those with aspirin intolerance it has been shown to be 36%.4 Patients with allergic rhinitis or polyps who do not have overt symptoms of asthma often exhibit underlying bronchial hyperresponsiveness, bronchial eosinophilia, or increased exhaled levels of nitric oxide.5-8

It has been shown in several studies that treating allergic airway inflammation in the nose with topical corticosteroids may be associated with a commensurate improvement in bronchial hyperresponsiveness and asthma control.9-13 In one study delivery of a 400 μg nominal …


Abstract Detrital apatite fission-track (AFT) thermochronology has been applied to lower Pleistocene lacustrine fan-delta sediments of the NE shoulder of the Mugello Basin, the youngest and closest to the main watershed among the Northern Apennines intermontane basins. The aim was to decode the shoulder uplift dynamics during the development of the basin through the analysis of the Quaternary fluvio-lacustrine deposits. Bedrock shoulder analysis, performed to match the detrital AFT data with their source, revealed the presence of a unexpected only partially annealed portion of a turbidite foredeep unit (AFT ages >7–5 Ma) belonging to the structural complex that constitutes the shoulder bedrock. These data disagree with the AFT age distribution pattern of the well-studied Northern Apennines chain, suggesting a segmentation of the foredeep basin. The latter may have been related to the presence of a tectonically induced topographic high (pre-late Langhian) in the area limiting the thickness of the overriding Ligurian lid. On the other hand, detrital AFT data provided arguments for understanding the dynamics of Mugello Basin shoulder uplift and rotation. The proportion in the different stratigraphic units of the fan-delta sediments of single grains showing young (reset) and old (non-reset) ages points to late Early Pleistocene timing of the development of the SW-verging backthrust that characterizes the study area. These data confirm and detail the picture of an early Quaternary development of the Mugello Basin under a compressional setting, only later (middle Pleistocene to present) superimposed by normal faultings.


Behavior
There have been many discussions of how genes and environment might interact in the context of human behavior. Brody et al. have studied the effects of a randomized behavioral intervention on adolescents who have a genetic polymorphism associated with the initiation of risky behavior. Roughly 600 11-year-olds were randomly assigned to the Strong African American Families (SAAF) program or to a control group. The SAAF group (and their caregivers, usually mothers) participated in separate and joint training sessions on parenting practices, stress management, dealing with racism, setting goals, and norms for the use of alcohol and other substances. Sessions occurred over the course of 1 year, and the initiation of risky behaviors was assessed at the beginning of the program and for the next 2.5 years. Two years later, saliva samples were collected to look for a polymorphism in the promoter region of the serotonin transporter. Possession of a short form of the allele has been associated previously with impulsivity, substance abuse, and early sexual activity. In the control group, adolescents with the short allele were twice as likely to have engaged in risky behaviors as those assigned to the SAAF group or those with the long allele in either group. Only one genetic polymorphism was examined, and the results need to be confirmed in a variety of populations; however, this provides further evidence of the value of this intervention and the mutability of the effects of genetic predisposition.

Child Devel. 80 , 645 (2009).


Ample local traditions serve as the catalysts that help build social integration within multicultural society. The social inclusion is developed when people from diverse ethnic and religious groups are deliberate to engage. The perang topat festival is a local tradition in Lombok, Indonesia, which includes two communities from different ethnicities and religions: Balinese-Hindus and Sasak-Muslims. The festival has been celebrated for years and has contributed significantly to maintaining harmony between various ethno-religious groups. This article is an ethnographic research report of the perang topat festival. The tradition has existed as a symbol of civic engagement between Muslims and Hindus. Nevertheless, Muslim puritans have recently criticized and banned Muslims' participation in the perang topat festival. The Muslim puritans believe that integrating religious rituals with traditions is a bid'ah (heresy). On the other hand, Muslim proponents of perang topat justify it through the construction of symbolic meanings of the festival site, utensils, and rituals in accordance with Islamic concepts.


Ground water often contains iron (Fe) is quite large. That it contains iron (Fe) in the water can cause the color of the water turns yellow brown after a while contact with air. Attempts to obtain water with iron levels are eligible, do not always have the sophisticated technology but could also be using chemicals like the simplest way and do not require great effort and cost in use, one of which is by way of affixing chlorine. This study aims to determine how much chlorine affixing effectiveness in lowering levels of iron (Fe) in the dug well water. This type of research is the design of Quasi-Experiments
(Quasi-Experiment Design) using a time series design (Time Series Design), which uses laboratory tests. Samples taken as much as 28 liters of water in which the sample for
the pretest while the other sample is done by providing
chlorine treatment at a dose of 1.5 mg / l, 2.0 mg
/ l, and 2.5 mg / l with a settling time of 30 minutes, 60 minutes and 90 minutes. The results showed that iron (Fe) in water wells dug by the settling time 30 minutes look
after affixing chlorine with a dose of 1.5 mg / l decrease of 16.66%, a dose of 2.5 mg / l of 22.6% , 2.5 mg / l at 28.37%. Later in the deposition time of 60 minutes after affixing chlorine with a dose of 1.5 mg/ l decrease of
24.75%, a dose of 2.0 mg / l at 34.15%, and at a dose of 2.5mg/ l down 45, 70%. While at the time of deposition 90 minutes after affixing chlorine with a dose of 1.5 mg / l decrease of 37.12%, a dose of 2.0 mg / l at 49.00%, and a
dose of 2.5 mg / l decrease by 50 , 16%%. To address water quality dug well that levels of substance iron (Fe) is more than the standard, it can be used chlorine as a water treatment dug wells to get clean water that meets health requirements. It is advisable for people to use a dose of 2.5 mg / l after 90 minutes settling time. To study further examination of other chemical parameters such as organic compounds that can be known whether the chlorine also can decrease these parameters.


Designing infrastructures to support instruction remains a challenge in educational reform. This article reports on a study of one school system's efforts to redesign its infrastructure for mathematics instruction by promoting teacher leadership. Using social network and interview data from 12 elementary schools, we explore how the district's infrastructure redesign efforts were internally coherent with and built upon existing infrastructure components. We then explore relations between infrastructure and school practice as captured in the instructional advice- and information-seeking interactions among school staff, finding that teacher leaders emerged as central actors and brokers of advice and information about mathematics within and between schools. Further, changes in school advice and information networks were associated with shifts in teachers' beliefs about and practices in mathematics toward inquiry-oriented approaches consistent with district curriculum. We argue that the district's redesign efforts to support teacher leadership coupled district curriculum and school and classroom practice in mathematics.


BACKGROUND
Transcriptome sequencing (RNA-seq) improves diagnostic rates in individuals with suspected Mendelian conditions to varying degrees, primarily by directing the prioritization of candidate DNA variants identified on exome or genome sequencing (ES/GS). Here we implemented an RNA-seq guided method to diagnose individuals across a wide range of ages and clinical phenotypes.

METHODS
One hundred fifteen undiagnosed adult and pediatric patients with diverse phenotypes and 67 family members (182 total individuals) underwent RNA-seq from whole blood and fibroblasts at the Baylor College of Medicine (BCM) Undiagnosed Diseases Network (UDN) clinical site from 2014-2020. We implemented a workflow to detect outliers in gene expression and splicing for cases that remained undiagnosed despite standard genomic and transcriptomic analysis.

RESULTS
The transcriptome-directed approach resulted in a diagnostic rate of 12% across the entire cohort, or 17% after excluding cases solved on ES/GS alone. Newly diagnosed conditions included Koolen-de Vries syndrome (KANSL1), Renpenning syndrome (PQBP1), TBCK-associated encephalopathy, NSD2- and CLTC-related intellectual disability, and others, all with negative conventional genomic testing, including ES and chromosomal microarray (CMA). Fibroblasts exhibited higher and more consistent expression of clinically relevant genes than whole blood. In solved cases with RNA-seq from both tissues, the causative defect was missed in blood in half the cases but none from fibroblasts.

CONCLUSION
For our cohort of undiagnosed individuals with suspected Mendelian conditions, transcriptome-directed genomic analysis facilitated diagnoses, primarily through the identification of variants missed on ES and CMA.