50 research outputs found
Watermarking Classification Dataset for Copyright Protection
Substantial research works have shown that deep models, e.g., pre-trained
models, on the large corpus can learn universal language representations, which
are beneficial for downstream NLP tasks. However, these powerful models are
also vulnerable to various privacy attacks, while much sensitive information
exists in the training dataset. The attacker can easily steal sensitive
information from public models, e.g., individuals' email addresses and phone
numbers. In an attempt to address these issues, particularly the unauthorized
use of private data, we introduce a novel watermarking technique via a
backdoor-based membership inference approach named TextMarker, which can
safeguard diverse forms of private information embedded in the training text
data. Specifically, TextMarker only requires data owners to mark a small number
of samples for data copyright protection under the black-box access assumption
to the target model. Through extensive evaluation, we demonstrate the
effectiveness of TextMarker on various real-world datasets, e.g., marking only
0.1% of the training dataset is practically sufficient for effective membership
inference with negligible effect on model utility. We also discuss potential
countermeasures and show that TextMarker is stealthy enough to bypass them
OptIForest: Optimal Isolation Forest for Anomaly Detection
Anomaly detection plays an increasingly important role in various fields for
critical tasks such as intrusion detection in cybersecurity, financial risk
detection, and human health monitoring. A variety of anomaly detection methods
have been proposed, and a category based on the isolation forest mechanism
stands out due to its simplicity, effectiveness, and efficiency, e.g., iForest
is often employed as a state-of-the-art detector for real deployment. While the
majority of isolation forests use the binary structure, a framework LSHiForest
has demonstrated that the multi-fork isolation tree structure can lead to
better detection performance. However, there is no theoretical work answering
the fundamentally and practically important question on the optimal tree
structure for an isolation forest with respect to the branching factor. In this
paper, we establish a theory on isolation efficiency to answer the question and
determine the optimal branching factor for an isolation tree. Based on the
theoretical underpinning, we design a practical optimal isolation forest
OptIForest incorporating clustering based learning to hash which enables more
information to be learned from data for better isolation quality. The rationale
of our approach relies on a better bias-variance trade-off achieved by bias
reduction in OptIForest. Extensive experiments on a series of benchmarking
datasets for comparative and ablation studies demonstrate that our approach can
efficiently and robustly achieve better detection performance in general than
the state-of-the-arts including the deep learning based methods.Comment: This paper has been accepted by International Joint Conference on
Artificial Intelligence (IJCAI-23
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Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
11qter trisomy is rare, mostly occurs in combination with partial monosomy of a terminal segment of another chromosome due to unbalanced segregation of parental translocations. Pure 11qter trisomy is rarer, only five cases have so far been reported. Here we report a family with all four siblings affected with neurodevelopmental disorders and facial dysmorphism. Chromosomal microarray analysis (CMA) identified 11q23.3-qter (15.1 Mb) deletion in one and reciprocal duplication in the other three siblings. Both father and grandfather are balanced translocation (46, XY, t (10;11) (q26;q23)) carriers. The genetic material involved on chromosome 10 is very limited (270 kb). Thus, the pedigree presented rare cases with “pure” 11qter trisomy or reciprocal 11qter monosomy (Jacobsen syndrome), offering a unique opportunity to examine clinical presentations of multiple individuals with identical genomic imbalance. The proband with 11qter monosomy presented with many features of Jacobsen syndrome. The three 11qter trisomy carriers presented with shared craniofacial features including brachycephaly and short philtrum. They are also significant for the following neurodevelopmental and neuropsychiatric defects: intellectual disability, expressive language deficiency, autistic features, auditory hallucination, self-talking and pain insensitivity. To our knowledge, this is the smallest “pure” trisomy 11qter so far reported and this is the first report to describe the neuropsychiatric features of patients with 11qter trisomy. Our observation also revealed dissimilar features in our patients compared with those of previously published trisomy 11qter cases. The pedigree also revealed phenotypic heterogeneity among siblings with identical genomic imbalance
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The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH
Background: The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, and early differentiation of transient CH is important to avoid unnecessary prolonged treatment with L-T4. Objective: To investigate the incidence of CH based on the newborn screening program in Guangxi Zhuang Autonomous Region, China, and to analyze the predictors that might allow for an early differentiation between permanent (P) and transient (T) CH. Design and methods Data from newborn screening program over a seven-year period (January 2009 to January 2016) at Guangxi Maternal and Child Health Hospital are analyzed. Blood samples were collected on filter paper between 3 and 7 days after birth, and TSH level was measured by time-resolved fluorescence assay. Individuals with increased TSH (TSH ≥ 8 IU/L) levels detected by newborn screening were recalled for further evaluation. Serum TSH, FT3 and FT4 were determined by electrochemiluminescence assay using venous blood samples. Diagnosis of CH is based on elevated TSH levels (>10 IU/L) and decreased FT4 levels (30 μg/day) has the highest predictive value for PCH. Earlier differentiation of PCH and TCH helps to determine appropriate treatment course
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
ABSTRACT Objective: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by nextgeneration sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH. Arch Endocrinol Metab. 2016;60(4):323-
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
ABSTRACT Objective: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
capture targets bed file of customized short stature panel by NimbleDesign
capture targets bed file of customized short stature panel by NimbleDesig
primary targets bed file of customized short stature panel performed on NimbleDesign
primary targets bed file of customized short stature panel performed on NimbleDesig