Yoo-Jin Jiny Ha

Genomic and precision medicine research has afforded notable advances in human cancer treatment, yet applicability to other species remains uncertain. Through whole-exome and transcriptome analyses of 191 spontaneous canine mammary tumors (CMTs) that exhibit the archetypal features of human breast cancers, we found a striking resemblance of genomic characteristics including frequent PIK3CA mutations (43.1%), aberrations of the PI3K-Akt pathway (61.7%), and key genes involved in cancer initiation

Rapid advances in sequencing and analysis technologies have enabled the accurate detection of diverse forms of genomic variants represented as heterozygous, homozygous and mosaic mutations. However, the best practices for mosaic variant calling remain disorganized owing to the technical and conceptual difficulties faced in evaluation. Here we present our benchmark of 11 feasible mosaic variant detection approaches based on a systematically designed whole-exome-level reference standard that mimic

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 1

The purpose of the present research was to examine the reliability, validity and factorial structure of the Korean version of Multidimensional Calling Measure(MCM). The items from the original scale were translated into Korean and back-translated prior to the distribution to 385 working adults in various vocations. Internal and external values were used in order to test convergent and discriminant validities, and Brief Calling Scale and Korean version of the Calling and Vocation Questionnaire(CV

TMEM161B encodes an evolutionarily conserved widely expressed novel 8-pass transmembrane protein of unknown function in human. Here we identify TMEM161B homozygous hypomorphic missense variants in our recessive polymicrogyria (PMG) cohort. Patients carrying TMEM161B mutations exhibit striking neocortical PMG and intellectual disability. Tmem161b knockout mice fail to develop midline hemispheric cleavage, whereas knock-in of patient mutations and patient-derived brain organoids show defects in ap

Most somatic mutations that arise during normal development are present at low levels in single or multiple tissues depending on the developmental stage and affected organs. However, the effect of human developmental stages or mutations of different organs on the features of somatic mutations is still unclear. Here, we performed a systemic and comprehensive analysis of low-level somatic mutations using deep whole-exome sequencing (average read depth ~500×) of 498 multiple organ tissues with matc

Detection of somatic mosaicism in non-proliferative cells is a new challenge in genome research, however, the accuracy of current detection strategies remains uncertain due to the lack of a ground truth. Herein, we sought to present a set of ultra-deep sequenced WES data based on reference standards generated by cell line mixtures, providing a total of 386,613 mosaic single-nucleotide variants (SNVs) and insertion-deletion mutations (INDELs) with variant allele frequencies (VAFs) ranging from 0.

Abstract Detection of somatic mosaicism in non-proliferative cells is a new challenge in genome research, however, the accuracy of current detection strategies remains uncertain due to the lack of a ground truth. Herein, we sought to present a set of reference standards based on a total of 386,613 mosaic single-nucleotide variants (SNVs) and insertion-deletion mutations (INDELs) with variant allele frequencies (VAFs) ranging from 0.5% to 56%, as well as 35,113,417 non-variant and 19,936 germline

Abstract Meningomyelocele (MM) is considered a genetically complex disease resulting from failure of neural tube closure (NTD). Patients display neuromotor disability and frequent hydrocephalus requiring ventricular shunting. A few proposed genes contribute to disease susceptibility, but most risk remains unexplained 1 . We postulated that de novo mutations (DNMs) under purifying selection contribute to MM risk 2 . Here we recruited a cohort of 851 MM trios requiring shunting at birth, compared

The first purpose of the study was to examine the mediating effect of work engagement and job satisfaction on the relationship between work values and organizational commitment. And the second purpose was to examine the moderating effect of person-organization fit on the relationship of work values and work engagement, organizational commitment. The survey data were gathered from 253 employees in Korea. As results, intrinsic work values had more positive effects on organizational commitment than

Mosaic mutations in normal tissues occur at low variant allele fractions (VAFs), complicating detection. To benchmark strategies, the SMaHT Network created a cell-line mixture (1:49) and produced ultra-deep whole-genome sequencing using short and long reads (five centers, 180-500× each). We assembled a reference of 44,008 mosaic SNVs and 2,059 Indels, cross-validation between platforms to expose limits of short-read analysis. We also partitioned the genome by mappability to examine the impact of

본 연구는 국내에서 시행 중인 관광 홍보 정책의 보도자료와 관광객의 블로그 리뷰 데이터를 수집하여인구감소 지역의 지역경제 활성화를 위한 수요 중심의 맞춤형 전략을 제시해 보고자 하였다. 이를위해 공공데이터포털에서 제공하는 전국 관광지 정보 표준데이터를 바탕으로 인구감소지역 지정 현황, 신용카드 지출액, 관광 예산 현황 등을 수집하고, 관광지식정보시스템을 통해 수집한 지자체의 관광홍보 정책 관련 보도자료와 관광객의 블로그 게시물에 대한 토픽 모델링을 수행하였다. 본 연구에서는LDA(Latent Dirichlet Allocation) 분석을 실시하여 지자체가 제공하는 관광 요소와 실제 관광객의 관심활동 사이에 불일치가 존재하는 것을 확인하였으며, 각각의 토픽과 키워드를 기반으로 주요 성공요인(Critical Success Factors, CSF)을 도출하고 고객여정지도를 구성함으로써 수요 중심의 맞춤형 관광홍보 전략을 제시하였다. 본 연구는 갈수록 심화되는 지역경제 불균형의 해소 방안으

Abstract The rapid advances in sequencing and analysis technologies have enabled the accurate detection of diverse forms of genomic variants, including germline, somatic, and mosaic mutations. However, unlike for the former two mutations, the best practices for mosaic variant calling still remain chaotic due to the technical and conceptual difficulties faced in evaluation. Here, we present our benchmark of nine feasible strategies for mosaic variant detection based on a systematically designed r