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조소희,서희진,이지현,하홍일,이숭덕 대한법의학회 2016 대한법의학회지 Vol.40 No.2
The declining tendency of signal joint T-cell receptor excision circles (sjTRECs) in peripheral blood is known to be age-dependent, and their quantification in blood or bloodstains has recently been introduced as a tool for age estimation. Lymphoid tissues such as the thymus and spleen represent potential candidates for age estimation because they undergo age-related structural and functional changes. In the present study, the correlation between age and sjTREC levels in human lymphoid tissues, namely the thymus, spleen, and blood, obtained from autopsy cases were investigated, with the goal of establishing a reliable age estimation model. Results showed negative regression curves with coefficient values of r=-0.410, r=-0.611, and r=-0.584 for thymus, spleen, and blood, respectively. In addition, this model was testing using thymus samples from the torsos of dismembered bodies from two real forensic cases, and results showed the predicted ages to be close to the actual ages of the victims. Further study will be required to improve accuracy and reduce estimation error, particularly within the lower age range. Nonetheless, these results suggest that quantification of sjTRECs in not only blood but also in other lymphoid tissues could be a useful tool for age estimation in forensic cases.
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원발성 질 평활근육종의 CT와 MR 영상소견: 1예 보고
조소희,나성은,조송미,변재영 대한영상의학회 2001 대한영상의학회지 Vol.45 No.3
질(vagina)의 원발성(primary) 악성 종양은 흔하지 않으며 전체 부인과적 악성종양의 1-2%정도를 차지한다. 질의 악성종양 중 윈발성 육종(sarcoma)은 전체의 약 2%정도로 매우 드물며 , 어른에서는 평활근육종(leiomyosarcoma)이 가장 흔하다 저자들은 41세의 여자에서 질내강을 가득 태우는 커다란 고형상의 종괴로 발생한 질의 원발성 평활근육종 1예를 경험하였기에 병리 조직소견과 함께 CT 및 MR의 영상소견을 보고하고자 한다. Primary malignant lesions of the vagina are uncommon and represent approximately 1-2% of all gynecologic malignancies. About 2% of all malignant vaginal lesions are primary sarcomas, the most common of these being leiomyosarcoma. We report the CT and MR imaging findings in a 41-year-old woman with vaginal leiomyosarcoma presenting as a bulky solid mass which caused expansion of the vaginal canal.
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SNP 기반 개인식별용 DNA 칩을 이용한 뼈 시료의가족관계 확인 사례보고
조소희,유형진,한지성,이혜영,이지현,이숭덕 대한법의학회 2013 대한법의학회지 Vol.37 No.4
DNA profiling with sets of short tandem repeat (STR) markers is the most popular method for identifying human DNA in forensics. Identification by STR typing might fail when DNA is degraded or is present in low amounts, such as in disaster victim identification (DVI) samples. In such cases, more information might be obtained by using additional markers such as single nucleotide polymorphisms (SNPs). Multiplex PCR and microarray are convenient techniques to analyze SNP markers. We used an AccuID™ Chip, SNP-based DNA chip manufactured by DNA Link Corporation, to confirm genetic relationship between two human bone samples that had been buried for more than 50 years and blood samples from the alleged descendants of the sources of the bone fragments. The chip combines an Affymetrix resequencing array with a multiplex PCR technology and can genotype hundreds of SNP markers in a single experiment. Genotyping the two bone samples yielded 90.5 and 77 SNP markers. The commonly genotyped markers (61 and 47 SNP loci) in each bone-family pair provided high paternity indices to support the genetic relationships in both cases.
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SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeqTM Identity Panel
조소희,이지현,김정재,김문영,김건우,황도영,이숭덕 대한법의학회 2017 대한법의학회지 Vol.41 No.2
Fetal DNA (fDNA) detection in maternal serum is a challenge due to low copy number and the smaller size of fDNA fragments compared to DNA fragments derived from the mother. Massively parallel sequencing (MPS) is a useful technique for fetal genetic analysis that is able to detect and quantify small amounts of DNA. In this study, seven clinical samples of maternal serum potentially containing fDNA were analyzed with a commercial single nucleotide polymorphism (SNP) panel, the HID-Ion AmpliSeqTM Identity Panel, and the results were compared to those from previous studies. Reference profiles for mothers and fetuses were not available, but multiple Y chromosomal SNPs were detected in two samples, indicating that fDNA was present in the serum and thereby validating observations of autosomal SNPs. This suggests that SNP-based MPS can be valuable for fDNA detection, thereby offering an insight into fetal genetic status. This technology could also be used to detect small amounts of DNA in mixed DNA samples for forensic applications.
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조소희,최재식 한국정보과학회 2020 정보과학회논문지 Vol.47 No.5
Globally, the use of artificial intelligence (AI) applications has increased in a variety of industries from manufacturing, to health care to the financial sector. As a result, there is a growing interest in explainable artificial intelligence (XAI), which can provide explanations of what happens inside AI. Unlike previous work using image data, we visualize hidden nodes for a time series. To interpret which patterns of a node make more effective model decisions, we propose a method of arranging nodes in a hidden layer. The hidden nodes sorted by weight matrix values show which patterns significantly affected the classification. Visualizing hidden nodes explains a process inside the deep learning model, as well as enables the users to improve their understanding of time series data. 산업, 의료, 금융 등 다양한 분야에서 인공지능을 활용한 예측 및 진단이 늘어나면서, 인공지능의 내부 작동원리를 설명하는 연구에도 관심이 높아지고 있다. 이미지 데이터에서 중요 입력 특징점을 시각화하는 기존 연구들과 다르게, 본 논문에서는 시계열 데이터의 은닉 노드를 시각화하여 심층신경망 내부의 작동원리를 설명한다. 본 논문은 은닉 노드의 시각화를 쉽게 하도록 가중치 행렬(weight matrix)을 기준으로 은닉 노드를 군집화하여 패턴을 파악하였다. 이를 통해 심층학습 모델의 작동원리를 설명할 뿐만 아니라, 사용자 수준에서 시계열 데이터에 대한 이해를 높일 수 있었다.
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Limitation of Regular Autosomal STR Testing for Paternity within an Isolated Population
조소희,유형진,한진성,김윤수,서혜진,이숭덕 대한법의학회 2014 대한법의학회지 Vol.38 No.4
In order to determine paternity by genetic testing, the Paternity Index (PI) and probabilityof paternity are calculated using likelihood ratio method. However, when it isnecessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of JejuIsland population in order to determine genetic relationship. Two notable casesshowed that despite the acceptable PI value obtained from STR testing, average of12 mismatches were found in total of 169 autosomal single nucleotide polymorphismtyping. Such cases imply that cautious statistical approach is necessary when determininggenetic relationship, especially within an isolated population group. Moreover,this would suggest that a further research and investigation are needed in order tounderstand the population structure of Korea.
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