Association genetics‟ or ‟association studies,” or ‟linkage disequilibrium mapping”.
Tool to resolve complex trait variation down to the sequence level by exploiting historical and evolutionary recombination events at the population level.
Natural population surveyed to determine MTA using LD.
Genome to pangenome : A doorway into crops genome explorationKiranKm11
This seminar underpins the significance and need of formulating pan-genome oriented crop improvement strategies over single reference genome based studies. Pangenome graphs uncovers large repository of genetic variation which could we useful for planning and executing strategic crop improvement programmed
Women Who Code-HSV Event:
'An Introduction to Machine Learning and Genomics'. Dr. Lasseigne will introduce the R programming language and the foundational concepts of machine learning with real-world examples including applications in the field of genomics with an emphasis on complex human disease research.
Brittany Lasseigne, PhD, is a postdoctoral fellow in the lab of Dr. Richard Myers at the HudsonAlpha Institute for Biotechnology and a 2016-2017 Prevent Cancer Foundation Fellow. Dr. Lasseigne received a BS in biological engineering from the James Worth Bagley College of Engineering at Mississippi State University and a PhD in biotechnology science and engineering from The University of Alabama in Huntsville. As a graduate student, she studied the role of epigenetics and copy number variation in cancer, identifying novel diagnostic biomarkers and prognostic signatures associated with kidney cancer. In her current position, Dr. Lasseigne’s research focus is the application of genetics and genomics to complex human diseases. Her recent work includes the identification of gene variants linked to ALS, characterization of gene expression patterns in schizophrenia and bipolar disorder, and development of non-invasive biomarker assays. Dr. Lasseigne is currently focused on integrating genomic data across cancers with functional annotations and patient information to explore novel mechanisms in cancer etiology and progression, identify therapeutic targets, and understand genomic changes associated with patient survival. Based upon those analyses, she is creating tools to share with the scientific community.
Integrative Genomics Viewer, popularly known as IGV, is one of the popular tools to visualize High-throughput sequencing data alignment and genome alteration (SNV, InDel) in an interactive mode. This tutorial gives a basic understanding of IGV interface and NGS data browsing.
Association genetics‟ or ‟association studies,” or ‟linkage disequilibrium mapping”.
Tool to resolve complex trait variation down to the sequence level by exploiting historical and evolutionary recombination events at the population level.
Natural population surveyed to determine MTA using LD.
Genome to pangenome : A doorway into crops genome explorationKiranKm11
This seminar underpins the significance and need of formulating pan-genome oriented crop improvement strategies over single reference genome based studies. Pangenome graphs uncovers large repository of genetic variation which could we useful for planning and executing strategic crop improvement programmed
Women Who Code-HSV Event:
'An Introduction to Machine Learning and Genomics'. Dr. Lasseigne will introduce the R programming language and the foundational concepts of machine learning with real-world examples including applications in the field of genomics with an emphasis on complex human disease research.
Brittany Lasseigne, PhD, is a postdoctoral fellow in the lab of Dr. Richard Myers at the HudsonAlpha Institute for Biotechnology and a 2016-2017 Prevent Cancer Foundation Fellow. Dr. Lasseigne received a BS in biological engineering from the James Worth Bagley College of Engineering at Mississippi State University and a PhD in biotechnology science and engineering from The University of Alabama in Huntsville. As a graduate student, she studied the role of epigenetics and copy number variation in cancer, identifying novel diagnostic biomarkers and prognostic signatures associated with kidney cancer. In her current position, Dr. Lasseigne’s research focus is the application of genetics and genomics to complex human diseases. Her recent work includes the identification of gene variants linked to ALS, characterization of gene expression patterns in schizophrenia and bipolar disorder, and development of non-invasive biomarker assays. Dr. Lasseigne is currently focused on integrating genomic data across cancers with functional annotations and patient information to explore novel mechanisms in cancer etiology and progression, identify therapeutic targets, and understand genomic changes associated with patient survival. Based upon those analyses, she is creating tools to share with the scientific community.
Integrative Genomics Viewer, popularly known as IGV, is one of the popular tools to visualize High-throughput sequencing data alignment and genome alteration (SNV, InDel) in an interactive mode. This tutorial gives a basic understanding of IGV interface and NGS data browsing.
Mating design is a schematic cross between the groups or strains of plants are made in a plant breeding that is common in agriculture and biological sciences
Analysis of variance in offspring plants results from a mating design
To evaluate the effects of additive, dominance ,and epistasis and heritability value equal to the value of genetic expectations
Association mapping, also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of linkage disequilibrium to link phenotypes to genotypes.Varioius strategey involved in association mapping is discussed in this presentation
Achieving Algorithmic Transparency with Shapley Additive Explanations (H2O Lo...Sri Ambati
Abstract:
Explainability in the age of the EU GDPR is becoming an increasingly pertinent consideration for Machine Learning. At QuantumBlack, we address the traditional Accuracy vs. Interpretability trade-off, by leveraging modern XAI techniques such as LIME and SHAP, to enable individualised explanations without necessary limiting the utility and performance of the otherwise ‘black-box’ models. The talk focuses on Shapley additive explanations (Lundberg et al. 2017) that integrate Shapley values from the Game Theory for consistent and locally accurate explanations; provides illustrative examples and touches upon the wider XAI theory.
Bio:
Dr Torgyn Shaikhina is a Data Scientist at QuantumBlack, STEM Ambassador, and the founder of the Next Generation Programmers outreach initiative. Her background is in decision support systems for Healthcare and Biomedical Engineering with a focus on Machine Learning with limited information.
Slides from a Comparative Genomics and Visualisation course (part 1) presented at the University of Dundee, 7th March 2014. Other materials are available at GitHub (https://github.com/widdowquinn/Teaching)
This is our tutorial on a toolkit allowing features in HMM (e.g., Knowledge Tracing). The paper was nominated for Best Paper Award in 2014 International Conference on Educational Data Mining.
Transgene-free CRISPR/Cas9 genome-editing methods in plantsCIAT
"Transgene-free CRISPR/Cas9 genome-editing methods in plants" by Matthew R. Willmann, Ph.D. Director, Plant Transformation Facility College of Agriculture and Life Sciences, School of Integrative Plant Science, Cornell University.
Genetic, biochemical and molecular mechanism SI and factors causing breakdown...RonikaThakur
This presentations covers about self incompatibility in plants, its types and genetic, molecular and biochemical mechanisms involved in it. Along with temporary suppression of SI and factors breaking it.
Mating design is a schematic cross between the groups or strains of plants are made in a plant breeding that is common in agriculture and biological sciences
Analysis of variance in offspring plants results from a mating design
To evaluate the effects of additive, dominance ,and epistasis and heritability value equal to the value of genetic expectations
Association mapping, also known as "linkage disequilibrium mapping", is a method of mapping quantitative trait loci (QTLs) that takes advantage of linkage disequilibrium to link phenotypes to genotypes.Varioius strategey involved in association mapping is discussed in this presentation
Achieving Algorithmic Transparency with Shapley Additive Explanations (H2O Lo...Sri Ambati
Abstract:
Explainability in the age of the EU GDPR is becoming an increasingly pertinent consideration for Machine Learning. At QuantumBlack, we address the traditional Accuracy vs. Interpretability trade-off, by leveraging modern XAI techniques such as LIME and SHAP, to enable individualised explanations without necessary limiting the utility and performance of the otherwise ‘black-box’ models. The talk focuses on Shapley additive explanations (Lundberg et al. 2017) that integrate Shapley values from the Game Theory for consistent and locally accurate explanations; provides illustrative examples and touches upon the wider XAI theory.
Bio:
Dr Torgyn Shaikhina is a Data Scientist at QuantumBlack, STEM Ambassador, and the founder of the Next Generation Programmers outreach initiative. Her background is in decision support systems for Healthcare and Biomedical Engineering with a focus on Machine Learning with limited information.
Slides from a Comparative Genomics and Visualisation course (part 1) presented at the University of Dundee, 7th March 2014. Other materials are available at GitHub (https://github.com/widdowquinn/Teaching)
This is our tutorial on a toolkit allowing features in HMM (e.g., Knowledge Tracing). The paper was nominated for Best Paper Award in 2014 International Conference on Educational Data Mining.
Transgene-free CRISPR/Cas9 genome-editing methods in plantsCIAT
"Transgene-free CRISPR/Cas9 genome-editing methods in plants" by Matthew R. Willmann, Ph.D. Director, Plant Transformation Facility College of Agriculture and Life Sciences, School of Integrative Plant Science, Cornell University.
Genetic, biochemical and molecular mechanism SI and factors causing breakdown...RonikaThakur
This presentations covers about self incompatibility in plants, its types and genetic, molecular and biochemical mechanisms involved in it. Along with temporary suppression of SI and factors breaking it.
과학수사에는 일상에서 접하는 모든 것이 증거물이 될 수 있습니다. 증거물을 분석하고 감정하는 방법은 따로 정형화된 것들이 있기 보다는 사례마다 따로 연구해서 밝혀내야하는 것이 많습니다. 보다 효율적이고 정확한 증거 분석과 감정을 위해 우리는 다양한 특허와 소프트웨어를 개발하고 있습니다. 발명이 범죄수사에 어떤 역할을 하고 있는지 그 흥미로운 이야기를 전하겠습니다.
UI/UX 디자인 방법을 활용, 소프트웨어 개발 과정에서 사용성을 검토하고 사용자 중심으로 개선할 수 있는 가이드가 발간되었습니다.
이 책은 2013년 산업통상자원부 시스템반도체 융합경쟁력 강화사업 중 UI/UX기술자산 제공 기반구축의 일환으로, 정보통신산업진흥원 소프트웨어공학센터와 한국디자인진흥원의 협업으로 제작되었습니다.
역량 있는 소프트웨어 기업의 UI/UX 디자인 활용과 디자인방법을 통한 사용자중심의 소프트웨어 개발 지원, 소프트웨어산업의 활성화를 위한 기반조성을 목적으로 가이드북 제작, 웹 가이드 게시, UI/UX디자인 컨설팅 등이 진행되었습니다.
이 책은 소프트웨어 기획·개발 전문가들이 개발이나 개선 과정에서 UX, UI 개발 방법을 적용해 보고, 사용자 관점에서 편리하게 설계되었는지 각 단계에서 확인할 수 있는 방법을 소개하고 있습니다. 소프트웨어 개발에 관한 UI/UX에 한정된 것으로서 부족하나마 국내 소프트웨어기업들이 보다 다양한 디자인 방법의 활용을 통해 사용자 중심으로 개발하는데 쓰임이 될 수 있기를 바랍니다.
감사합니다.
*소프트웨어 자산뱅크(http://swbank.kr) 및 디자인포털 디자인디비(www.designdb.com) 에서 무료로 파일을 다운받을 수 있습니다.
소프트웨어 공학센터의 품질기준에 근거한 최소한의 UI/UX/GUI/UT 지식을 이해할 수 있습니다.
소프트웨어 개발 또는 개선 시에 단계별로 간단히 사용성을 테스트해 볼 수 있는 방법을 알 수 있습니다.
◇ 목차
Part I 소프트웨어 개발 UI/UX 참조모델 소개
1. UI & UX ?
2. 소프트웨어 개발 UI/UX 참조모델 제작배경
3. 소프트웨어 개발 UI/UX 참조모델 & 가이드 소개
Part II 소프트웨어 개발 UI/UX 참조모델 가이드
1. 목표정의
2. 프로젝트 계획
3. 요구사항 정의
4. 설계 및 구현
5. 테스트
6. 배포 및 관리
Appendix
용어 소개
Reference
방법론
참고서식
◇ 기획
미래창조과학부
정보통신산업진흥원 부설 SW공학센터
한국디자인진흥원
◇ 발행처
정보통신산업진흥원 부설 SW공학센터
한국디자인진흥원
◇ 발행연월
2013.12
◇ 참고링크 : SW자산뱅크 UI/UX 체험하기 바로가기 http://swbank.kr
◇ 문의처 : 한국디자인진흥원 서비스디지털융합팀 031)780-2263
general information regarding single nucleotide polymorphism.
A Single Nucleotide Polymorphisms (SNP), pronounced “snip,” is a genetic variation when a single nucleotide (i.e., A, T, C, or G) is altered and kept through heredity.
In this update of his past presentations on Mobile Eating the World -- delivered most recently at The Guardian's Changing Media Summit -- a16z’s Benedict Evans takes us through how technology is universal through mobile. How mobile is not a subset of the internet anymore. And how mobile (and accompanying trends of cloud and AI) is also driving new productivity tools.
In fact, mobile -- which encompasses everything from drones to cars -- is everything.
11. Human Genome Project 1990년 휴먼게놈프로젝트 시작 2000년 DNA 염기서열 중 97% 해독 2003년 99.99% 정확도의 인간유전체지도 완성 Database : GenBank (http://www.ncbi.nlm.nih.gov/Genbank/)
22. 유전적거리(Genetic distance) 정의: 2개의유전자좌사이의교차횟수의기대치 단위 : M (morgan) 1M은“1회의생식세포분열에서 1회의교차가일어나는거리” 사람의전염색체에대한유전적거리 남성: 약 28M, 여성: 약 43M 물리적거리(Physical distance) 정의: 염기배열의수 단위: bp (base pair) 사람의전유전체에대한물리적거리 : 3x109 bp
39. Additive polygene model 이산과 연속의 문제를 통합 The correlation between relatives on the supposition of Mendelian inheritance.Trans. Roy. Soc, Edinb, 1918
40. Battle Round 3 E. Pearson R.A. Fisher Neyman-Pearson’s lemma Alternative hypothesis The most powerful test Confidence interval Only null hypothesis Fiducial interval J. Neyman
41. 잘못된 유전학 우생학(eugenics) 유전적으로 뒤떨어진 개인을 배제 - Galton , K. Pearson, R.A Fisher - Adolf Hitler (1931) “유전적 결함이 있는 자손 억제를 위한 법” Lysenko주의 스탈린 시대 유전적으로는 모두 평등하며, 노력에 의해 형질은 변화
52. 게놈 관련 연구의 대상물 유전형질(trait) 유전자형으로 인해 발생하는 결과의 공간 질적형질(qualitative trait) 양적형질(quantitative trait) 발병 비발병 2.1 6.4 9.7 병의 발병유무 검사치 표현형(phenotype)
53. A a B b A or a A a B b B or b 멘델의 법칙 분리의 법칙 우열의 법칙 독립의 법칙 질적표현형(qualitative phenotype) 유전자형A/a A or a 연쇄의 법칙 유전 계승의 법칙 = 멘델의 법칙 + 연쇄의 법칙
54. 우열의 법칙Mendel's law of dominance (1st law) 질적표현형(qualitative phenotype) 양적표현형(quantitative phenotype) AA or Aa aa AA P(D=+|AA)=q+AA P(D=+|Aa)=q+Aa Aa XAA~N(μ1,σ12) P(D=+|aa)=q+aa aa XAa~N(μ1,σ12) Xaa~N(μ2,σ22)
55. 유전계승양식mode of inheritance 유전자형(genotype) 열성(recessive) 우성(dominant) 대립형질 A에 대해 열성 대립형질 A에 대해 우성 유전자형 AAAa aa aa Aa AA Aaaa AA
117. 100 100 GWAS Control Case Power ? ? 후보유전자 연관분석 유의수준:1.38×10-08 Control Case 유의수준:0.01 2nd stage 의 샘플사이즈 2 단계 연관분석2 Stage association study 연구전체의 유의수준:1×10-7
118. 다형 데이터의 품질관리 개체의 Call Rate ( > 0.99 ) SNP의 Call Rate ( > 0.99 ) HWE 적합성 검정 ( p > 1e-5 ) Minor Allele Frequency ( > 0.01 ) 집단의 구조화 탐색
120. 가계정보를 이용한 연관분석 Transmission Disequilibrium Test (TDT) Ott et al. (1992) Hum Hered, 42, 337-346. Spielman et al. (1993) Am J Hum Genet, 52, 506-516. A/T A/T A/A