Emma Huxley. Principal Clinical Scientist West Midlands Regional Genetics Laboratory
|
|
- Bethanie Cunningham
- 6 years ago
- Views:
Transcription
1 Genetic Analysis Using a High Density SNP Array in Myelodysplastic Syndrome: Clinical Utility and Comparative Analysis Study Compared to Metaphase Chromosome Analysis. Emma Huxley Principal Clinical Scientist West Midlands Regional Genetics Laboratory
2 Disease of the elderly? MDS related clone Short survival Myelodysplastic syndrome A clonal haemopoietic stem cell disorder Diagnosis is challenging Bone marrow required 50% cytogenetic clonal detection rate (WHO, 2008) G-band analysis is mandatory (ELN, IPSS-R)
3 The MDS SNP array project Funded by Affymetrix for 2 years Demonstrate clinical utility of Cytoscan HD array Complementary to G-band analysis Presentation MDS cases or continued suspicion of MDS (BM and paired PB)
4 Why use SNP arrays? Cytogenetic changes in MDS are largely copy number (CN) changes SNP arrays also allow for detection of regions of copy neutral loss of heterozygosity (CN-LOH) Resolution is beyond that of G-band chromosome analysis kb vs Mb No need for metaphases, just DNA Potential for blood to be analysed instead of marrow, meaning samples could be obtained from patients too frail for bone marrow aspirate Potential to reduce failure rates
5 Affymetrix CytoScan HD Array High density array with over 2.6 million markers 750,000 genotype-able SNPs 1.9 million non-polymorphic probes Can reliably detect changes down to 25 kb
6 SNP arrays Genomic backbone probes SNP probes A or B variant and ratio of each Smooth signal Copy number state Regions of loss of heterozygosity Genes G-banded chromosome
7 Copy neutral loss of heterozygosity (CN-LOH) Duplication of the maternal or paternal chromosome or chromosomal region and concurrent loss of the other alleles Germline or acquired Whole chromosome or segmental Large, telomeric CN-LOH suggests acquired Can result in doubling up of mutated genes or complete loss of genes if deleted CN-LOH is seen in MDS
8 Results Increased number of genetic aberrations (CN changes and CN- LOH) detected by SNP array 53/150 (35%) by metaphase analysis and 82/150 (55%) by SNP array analysis
9 33 cases with a normal karyotype by G-band analysis showed genetic aberrations by SNP array 4 cases with an abnormal karyotype had a normal SNP array 2 low level abnormal clones (~4%) 2 balanced rearrangements inv(5)(p15q3) inv(11)(q21q23) Detection of abnormal clones with CN changes at sensitivity as low as between 6 and 20%
10 Detection of CN-LOH regions, which contain bi-allelic gene mutations, in 20/150 (13%) cases, including chromosomal regions 1p (MPL, NRAS), 4q (TET2), 7q (CUX1), 11q (CBL), and 17p(TP53) Regions of CN-LOH detected by SNP array 7q 11q
11 Detection of deletions at the single gene level, including CUX1, TET2 and RUNX1 RUNX1 CUX1 Detection of copy number changes within genes, including duplication within KMT2A Consistent with partial tandem duplication
12 Case Study 1 57 year old female?mds, thrombocytopenia, fatigue, bruising G-band chromosome analysis: 48,XX,+19,+21[4]/ 49,XX,+8,+19,+21[6]
13 7 10% 8 60% 19 84% 21 80%
14 Final karyotype: 48,XX,+19,+21[16]/ 49,XX,+8,+19,+21[39]/ 47,XX,-7,+19,+21[5] IPSS-R cytogenetic risk group changed from poor to very poor
15 Case study 2 75year old male Confirmed MDS RARS G-band chromosome analysis: 46,XY[20] 49.6 Mb CN-LOH 11q14.1qter Recurrent finding in myeloid neoplasia CMML, MDS/MPN and atypical CML Associated with CBL mutation Mutation analysis on-going
16 83 year old female?mds Case Study 3 Anaemia with thrombocytopaenia Unable to obtain marrow PB sent specifically for SNP array analysis Two deletions of 5q: ~8Mb 5q14.3->5q15 ~56Mb 5q21.1->5q33.3
17 Case Study 4 73 year old female MDS,?progression to AML G-band chromosome analysis: 47,XX,+21[4]/ 46,XX[6] Whole gain of chromosome 21
18 12 Kb gain of 11q23.3
19 Support findings of G-band analysis Trisomy 21 In addition, Detection of partial duplication within KMT2A (MLL) gene at 11q23.3 Likely to represent partial tandem duplication (PTD) of KMT2A Recurrent finding in myeloid neoplasia
20 Case Study 5 14 year old male?hypoplastic MDS,?aplastic anaemia G-band chromosome analysis: 46,XY[20]
21 2 regions of CN-LOH of 6p: 6pter->6p pter -> 6p12.3
22
23 CN LOH 6p including HLA gene complex region is recurrent finding in AA Typically see multiple clones (two observed in this patient) Process not driven by malignancy May be mechanism of immune escape in this disease SNP array able to distinguish between MDS and AA
24 Case Study 6 61 year old female Known CLL. Now confirmed secondary MDS G-band chromosome analysis: 45,XX,add(5)(q1),-7[4]/ 46,XX,add(5)(q1),-7,+mar[5]/ 46,XX[1]
25 ~28 Mb deletion of 6q14.3q22.1 ~36 Mb deletion of 13q14.12q31.1
26 ~30 Mb CN-LOH of 20q11.22 to 20qtel Deletions of 6q and 13q and CN-LOH of 20q are recurrent findings in CLL. No evidence of abnormalities observed by metaphase analysis (del(5q) and -7) Presence of two concurrent diseases: CLL and MDS
27 Conclusions so far. Advantages of using SNP array: Detect abnormalities below the resolution of G-banding Detect abnormal clones with CN changes at sensitivities as low as between 5 20%, dependent on aberration size Detect regions of CN-LOH Help define/refine breakpoints Ability to utilise PB instead of BM as no dividing cells are required, thereby allowing genetic analysis in patients too frail or otherwise unsuitable for BM Ability, when performed as a complementary tool to metaphase analysis, to detect subclones with different CN changes Challenges of using SNP array: Cannot detect genuinely balanced rearrangements Presence of concurrent neoplasia Cannot determine tetraploidy and certain amplifications
28 Use blood instead of bone marrow?% patients with a clone Improve diagnostic yield Improve patient care, QOL and outcome Expected benefits Improve turn around times Direct the treatment Increase confidence in diagnosis and risk stratification
29 Acknowledgements West Midlands Regional Genetics Laboratory: Sally Jeffries Nicola Trim Laura Ford Paula Wojtowicz Jane Soden Judith Caddick Mike Griffiths Affymetrix
Getting high-quality cytogenetic data is a SNP.
Getting high-quality cytogenetic data is a SNP. SNP data. Increased insight. Cytogenetics is at the forefront of the study of cancer and congenital disorders. And we put you at the forefront of cytogenetics.
More informationDetecting copy-neutral LOH in cancer using Agilent SurePrint G3 Cancer CGH+SNP Microarrays
Detecting copy-neutral LOH in cancer using Agilent SurePrint G3 Cancer CGH+SNP Microarrays Application Note Authors Paula Costa Anniek De Witte Jayati Ghosh Agilent Technologies, Inc. Santa Clara, CA USA
More informationCharacterization of Allele-Specific Copy Number in Tumor Genomes
Characterization of Allele-Specific Copy Number in Tumor Genomes Hao Chen 2 Haipeng Xing 1 Nancy R. Zhang 2 1 Department of Statistics Stonybrook University of New York 2 Department of Statistics Stanford
More informationComplementary Technologies for Precision Genetic Analysis
Complementary NGS, CGH and Workflow Featured Publication Zhu, J. et al. Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features
More informationAmerican Board of Medical Genetics and Genomics
American Board of Medical Genetics and Genomics Logbook Guidelines for Certification in Laboratory Genetics and Genomics for the 2019 Examination as of 11/10/2016 Purpose: The purpose of the logbook is
More informationFundamentals of Next-Generation Sequencing: Technologies and Applications
Fundamentals of Next-Generation Sequencing: Technologies and Applications Society for Hematopathology European Association for Haematopathology 2017 Workshop Eric Duncavage, MD Washington University in
More informationChromosome Analysis Suite 3.0 (ChAS 3.0)
Chromosome Analysis Suite 3.0 (ChAS 3.0) FAQs related to CytoScan Cytogenetics Suite 1. What is required for processing and viewing CytoScan array CEL files? CytoScan array CEL files are processed and
More informationTargeted Sequencing of Leukemia-Associated Genes Using 454 Sequencing Systems
Sequencing Application Note March 2012 Targeted Sequencing of Leukemia-Associated Genes Using 454 Sequencing Systems GS GType TET2/CBL/KRAS and RUNX1 Primer Sets for the GS Junior and GS FLX Systems. Introduction
More informationStructural variation. Marta Puig Institut de Biotecnologia i Biomedicina Universitat Autònoma de Barcelona
Structural variation Marta Puig Institut de Biotecnologia i Biomedicina Universitat Autònoma de Barcelona Genetic variation How much genetic variation is there between individuals? What type of variants
More information4.1. Genetics as a Tool in Anthropology
4.1. Genetics as a Tool in Anthropology Each biological system and every human being is defined by its genetic material. The genetic material is stored in the cells of the body, mainly in the nucleus of
More informationHigh-Resolution Oligonucleotide- Based acgh Analysis of Single Cells in Under 24 Hours
High-Resolution Oligonucleotide- Based acgh Analysis of Single Cells in Under 24 Hours Application Note Authors Paula Costa and Anniek De Witte Agilent Technologies, Inc. Santa Clara, CA USA Abstract As
More informationPDGFRB FISH PRODUCT DATASHEET. Proprietary Name: PDGFRB FISH for Gleevec Eligibility in Myelodysplastic Syndrome/Myeloproliferative Disease (MDS/MPD)
PDGFRB FISH PRODUCT DATASHEET Proprietary Name: PDGFRB FISH for Gleevec Eligibility in Myelodysplastic Syndrome/Myeloproliferative Disease (MDS/MPD) Established Name: PDGFRB FISH for Gleevec in MDS/MPD
More informationREVIEWS. Structural variation in the human genome
REVIEWS Structural variation in the human genome Lars Feuk, Andrew R. Carson and Stephen W. Scherer Abstract The first wave of information from the analysis of the human genome revealed SNPs to be the
More informationBENG 183 Trey Ideker. Genome Assembly and Physical Mapping
BENG 183 Trey Ideker Genome Assembly and Physical Mapping Reasons for sequencing Complete genome sequencing!!! Resequencing (Confirmatory) E.g., short regions containing single nucleotide polymorphisms
More informationPopulation Genetics (Learning Objectives)
Population Genetics (Learning Objectives) Define the terms population, species, allelic and genotypic frequencies, gene pool, and fixed allele, genetic drift, bottle-neck effect, founder effect. Explain
More informationFluorescent in-situ Hybridization
Fluorescent in-situ Hybridization Presented for: Presented by: Date: 2 Definition In situ hybridization is the method of localizing/ detecting specific nucleotide sequences in morphologically preserved
More informationDNA Collection. Data Quality Control. Whole Genome Amplification. Whole Genome Amplification. Measure DNA concentrations. Pros
DNA Collection Data Quality Control Suzanne M. Leal Baylor College of Medicine sleal@bcm.edu Copyrighted S.M. Leal 2016 Blood samples For unlimited supply of DNA Transformed cell lines Buccal Swabs Small
More information401 N. Washington Street, Suite 700, Rockville, MD Phone: Fax:
Leveraging Resources to Design, Conduct and Analyze Hematopoietic Stem Cell Transplant Clinical Trials: The Ongoing Collaboration between the Center for International Blood and Marrow Transplant Research
More informationSpontaneous abrogation of a DNA damage checkpoint has clinical benefit but promotes leukemogenesis in Fanconi anemia patients
Supplemental Table and Figures for the manuscript: Spontaneous abrogation of a DNA damage checkpoint has clinical benefit but promotes leukemogenesis in Fanconi anemia patients By Raphael Ceccaldi, Delphine
More informationCS273B: Deep Learning in Genomics and Biomedicine. Recitation 1 30/9/2016
CS273B: Deep Learning in Genomics and Biomedicine. Recitation 1 30/9/2016 Topics Genetic variation Population structure Linkage disequilibrium Natural disease variants Genome Wide Association Studies Gene
More informationThe Chromosomal Basis of Inheritance
CAMPBELL BIOLOGY IN FOCUS URRY CAIN WASSERMAN MINORSKY REECE 12 The Chromosomal Basis of Inheritance Lecture Presentations by Kathleen Fitzpatrick and Nicole Tunbridge, Simon Fraser University SECOND EDITION
More informationFrequently Asked Questions
Frequently Asked Questions CytoScan Assay and CytoScan 750K Array Equipment requirements 1. What is the CytoScan Assay? The CytoScan Assay, along with the CytoScan 750K Arrays, the GeneChip Command Console
More informationHuether and McCance: Understanding Pathophysiology, 5 th Edition
Huether and McCance: Understanding Pathophysiology, 5 th Edition Chapter 02: Genes and Genetic Diseases Test Bank MULTIPLE CHOICE 1. A nurse recalls the basic components of DNA are: a. Pentose sugars and
More informationAdvances in B Lymphblastic Leukemia MRD. Brent Wood MD PhD Departments of Laboratory Medicine and Pathology University of Washington.
Advances in B Lymphblastic Leukemia MRD Brent Wood MD PhD Departments of Laboratory Medicine and Pathology University of Washington Measures of Response Clinical outcome OS, EFS, RFS, etc. Blast count
More informationMutations during meiosis and germ line division lead to genetic variation between individuals
Mutations during meiosis and germ line division lead to genetic variation between individuals Types of mutations: point mutations indels (insertion/deletion) copy number variation structural rearrangements
More informationSingle Nucleotide Variant Analysis. H3ABioNet May 14, 2014
Single Nucleotide Variant Analysis H3ABioNet May 14, 2014 Outline What are SNPs and SNVs? How do we identify them? How do we call them? SAMTools GATK VCF File Format Let s call variants! Single Nucleotide
More informationOverview of Human Genetics
Overview of Human Genetics 1 Structure and function of nucleic acids. 2 Structure and composition of the human genome. 3 Mendelian genetics. Lander et al. (Nature, 2001) MAT 394 (ASU) Human Genetics Spring
More informationBasic Concepts of Human Genetics
Basic Concepts of Human Genetics The genetic information of an individual is contained in 23 pairs of chromosomes. Every human cell contains the 23 pair of chromosomes. One pair is called sex chromosomes
More informationChapter 14: Genes in Action
Chapter 14: Genes in Action Section 1: Mutation and Genetic Change Mutation: Nondisjuction: a failure of homologous chromosomes to separate during meiosis I or the failure of sister chromatids to separate
More informationValidation Study of FUJIFILM QuickGene System for Affymetrix GeneChip
Validation Study of FUJIFILM QuickGene System for Affymetrix GeneChip Reproducibility of Extraction of Genomic DNA from Whole Blood samples in EDTA using FUJIFILM membrane technology on the QuickGene-810
More informationBST227 Introduction to Statistical Genetics
Introduction to Statistical Genetics BIO 227 Lecture 1 Introduction and Overview of Genetic http BST227 Introduction to Statistical Genetics Lecture 1: Introduction and Overview of Genetic Disease http://aryeelab.org/bst227
More informationLecture #1. Introduction to microarray technology
Lecture #1 Introduction to microarray technology Outline General purpose Microarray assay concept Basic microarray experimental process cdna/two channel arrays Oligonucleotide arrays Exon arrays Comparing
More informationThe Polymerase Chain Reaction. Chapter 6: Background
The Polymerase Chain Reaction Chapter 6: Background PCR Amplify= Polymerase Chain Reaction (PCR) Invented in 1984 Applications Invention of PCR Kary Mullis Mile marker 46.58 in April of 1983 Pulled off
More informationCorporate Overview. March 2017
Corporate Overview March 2017 Bionano Genomics Overview Commercial-stage company developing and selling instruments & consumables for whole genome analysis Addressing the needs for: A better understanding
More informationUnit 6: DNA and Protein Synthesis Guided Notes
Unit 6: DNA and Protein Synthesis Guided Notes 1 DNA Nucleic Acid review: Nucleic Acids are made of nucleotides. There are two types of nucleotides have 2 rings. They are and They look like: have 1 ring.
More informationUnit 10: Genetics. Chapter 9: Read P
Unit 10: Genetics Chapter 9: Read P. 145-167 10.0 Genetics The Definition of Genetics The study of heredity and how traits are passed on through generations. Gregor Mendel: The Father of Genetics Gregor
More informationCancer Genetics Solutions
Cancer Genetics Solutions Cancer Genetics Solutions Pushing the Boundaries in Cancer Genetics Cancer is a formidable foe that presents significant challenges. The complexity of this disease can be daunting
More informationMonitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome
Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome Comparison With International Working Group Treatment Response Criteria Jae Hyeon Park, MD; Miyoung Kim,
More informationConcepts: What are RFLPs and how do they act like genetic marker loci?
Restriction Fragment Length Polymorphisms (RFLPs) -1 Readings: Griffiths et al: 7th Edition: Ch. 12 pp. 384-386; Ch.13 pp404-407 8th Edition: pp. 364-366 Assigned Problems: 8th Ch. 11: 32, 34, 38-39 7th
More informationIntroducing: 3Zomy Aneuploidity Test
Introducing: 3Zomy Aneuploidity Test QF-PCR Life Technologies (India) Pvt. Ltd. 306, Aggarwal City Mall, Opposite M2K Pitampura, Delhi 110034 (INDIA). Ph: +91-11-42208000, 4220811, 42208222 Mobile: +91-9810521400
More informationCorporate Overview of BioNano Genomics, Inc. September 2016
Corporate Overview of BioNano Genomics, Inc. September 2016 BioNano Is the Key to Unlocking the $100+ Billion Potential of the Genomics Market Market Size Growth Catalyst Key Driver Bottleneck $40B- $110B
More informationChromosomal Inheritance
Chromosomal Inheritance 1. Explain how the observations of cytologists and geneticists provided the basis for the chromosome theory of inheritance. TT X tt 2. Describe the contributions that Thomas Hunt
More information12 The Chromosomal Basis of Inheritance
CAMPBELL BIOLOGY IN FOCUS Urry Cain Wasserman Minorsky Jackson Reece 12 The Chromosomal Basis of Inheritance Lecture Presentations by Kathleen Fitzpatrick and Nicole Tunbridge Overview: Locating Genes
More informationOutline. General principles of clonal sequencing Analysis principles Applications CNV analysis Genome architecture
The use of new sequencing technologies for genome analysis Chris Mattocks National Genetics Reference Laboratory (Wessex) NGRL (Wessex) 2008 Outline General principles of clonal sequencing Analysis principles
More informationGENE MAPPING. Genetica per Scienze Naturali a.a prof S. Presciuttini
GENE MAPPING Questo documento è pubblicato sotto licenza Creative Commons Attribuzione Non commerciale Condividi allo stesso modo http://creativecommons.org/licenses/by-nc-sa/2.5/deed.it Genetic mapping
More informationBasic Concepts of Human Genetics
Basic oncepts of Human enetics The genetic information of an individual is contained in 23 pairs of chromosomes. Every human cell contains the 23 pair of chromosomes. ne pair is called sex chromosomes
More informationSALSA MLPA probemix P155-D1 Ehlers-Danlos syndrome III & IV
SALSA MLPA probemix P155-D1 Ehlers-Danlos syndrome III & IV Lot D1-1114. As compared to previous version (lot C1-0811), one reference probe and one COL3A1 target probe have been removed, and the length
More informationComplex Inheritance and Human Heredity
Complex Inheritance and Human Heredity Before You Read Use the What I Know column to list the things you know about human heredity and genetics. Then list the questions you have about these topics in the
More informationIdentification of disease-related genes. Heymut Omran Department of Pediatrics and Adolescent Medicine; Freiburg; Germany
Identification of disease-related genes Heymut Omran Department of Pediatrics and Adolescent Medicine; Freiburg; Germany Gene identification strategies A. Position-independent strategies for identifying
More informationWhat is his karyotype?
Methods of chromosome analysis What is his karyotype? He is 4 years old (looks like 2 y.o.) Knows few words Inadequate reaction Abnormal face Short hands Heart abnormalities, kidney abnormalities Plurimapformative
More informationBiology Semester Exam Study Guide--January 2016
Objective Response Reflection 3 = I totally know this! :) 2 = I remember this somewhat 1 = I don't remember this at all Explain the difference between independent and dependent variables. Explain what
More informationCorporate Medical Policy Genetic Testing for Fanconi Anemia
Corporate Medical Policy Genetic Testing for Fanconi Anemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_fanconi_anemia 03/2015 3/2017 3/2018 12/2017 Description
More informationCertificate of Analysis - Amended
Certificate of Analysis - Amended Product Description WA26 Cell Line Provider WiCell Parent Material This material descended from derivation Lot Number WB0131 Date Vialed 26-February-2012 Passage Number
More informationGene mutation and DNA polymorphism
Gene mutation and DNA polymorphism Outline of this chapter Gene Mutation DNA Polymorphism Gene Mutation Definition Major Types Definition A gene mutation is a change in the nucleotide sequence that composes
More informationAnalyzing Affymetrix GeneChip SNP 6 Copy Number Data in Partek
Analyzing Affymetrix GeneChip SNP 6 Copy Number Data in Partek This example data set consists of 20 selected HapMap samples, representing 10 females and 10 males, drawn from a mixed ethnic population of
More informationIntroduction to Basic Human Genetics. Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland
Introduction to Basic Human Genetics Professor Hanan Hamamy Department of Genetic Medicine and Development Geneva University Switzerland Training Course in Sexual and Reproductive Health Research Geneva
More informationRapid Learning Center Presents. Teach Yourself AP Biology in 24 Hours
Rapid Learning Center Chemistry :: Biology :: Physics :: Math Rapid Learning Center Presents Teach Yourself AP Biology in 24 Hours 1/35 *AP is a registered trademark of the College Board, which does not
More informationHuman SNP haplotypes. Statistics 246, Spring 2002 Week 15, Lecture 1
Human SNP haplotypes Statistics 246, Spring 2002 Week 15, Lecture 1 Human single nucleotide polymorphisms The majority of human sequence variation is due to substitutions that have occurred once in the
More informationAS91159 Demonstrate understanding of gene expression
AS91159 Demonstrate understanding of gene expression Mutations and Metabolic Pathways (2015,2) In 1941 biologists George Beadle and Edward Tatum exposed the bread mould Neurospora crassa to radiation.
More informationMutation entries in SMA databases Guidelines for national curators
1 Mutation entries in SMA databases Guidelines for national curators GENERAL CONSIDERATIONS Role of the curator(s) of a national database Molecular data can be collected by many different ways. There are
More informationExplain why the scientists used the same restriction endonuclease enzymes on each DNA sample
Q1.Some populations of flies are becoming resistant to insecticides intended to kill them. Scientists developed a method for finding out whether a fly was carrying a recessive allele, r, that gives resistance
More informationLecture 2: Biology Basics Continued
Lecture 2: Biology Basics Continued Central Dogma DNA: The Code of Life The structure and the four genomic letters code for all living organisms Adenine, Guanine, Thymine, and Cytosine which pair A-T and
More informationAmerican Society of Cytopathology Core Curriculum in Molecular Biology
American Society of Cytopathology Core Curriculum in Molecular Biology American Society of Cytopathology Core Curriculum in Molecular Biology Chapter 3 Molecular Techniques Separation and Detection, Part
More informationGenetics and Genomics in Clinical Research
Genetics and Genomics in Clinical Research An Immersion Course for Clinical Investigators at UAB Introduction and Overview Bruce R. Korf, MD, PhD Goals Describe approaches to study of the genomic contributions
More informationMRC-Holland MLPA. Description version 12; 27 November 2015
SALSA MLPA probemix P079-A3 OTC Lot A3-1015. As compared to previous version (lot A2-0211), 5 reference probes have been replaced. Also, 8 reference probes and the TSPAN7 flanking probe have been removed.
More informationSupplementary Note: Detecting population structure in rare variant data
Supplementary Note: Detecting population structure in rare variant data Inferring ancestry from genetic data is a common problem in both population and medical genetic studies, and many methods exist to
More informationGenome Sequencing and Structural Variation
Genome Sequencing and Structural Variation Institut für Medizinische Genetik und Humangenetik Charité Universitätsmedizin Berlin Genomics: Lecture #10 Today Structural Variation Deletions Duplications
More informationThe HLA Community s Success in Combining Clinical & Genomic Data
The HLA Community s Success in Combining Clinical & Genomic Data Elizabeth Trachtenberg MS, PhD, DABHI Director, Center for Applied Genomics HLA/Immunogenetics Laboratory Children s Hospital & Research
More informationDNA and DNA Replication
Name Period PreAP Biology QCA 2 Review Your EOS exam is approximately 70 MC questions. This review, coupled with your QCA 1 review you received in October should lead you back through the important concepts
More informationNext Generation Sequencing. Target Enrichment
Next Generation Sequencing Target Enrichment Next Generation Sequencing Your Partner in Every Step from Sample to Data NGS: Revolutionizing Genetic Analysis with Single-Molecule Resolution Next generation
More informationIntroduction to BioMEMS & Medical Microdevices DNA Microarrays and Lab-on-a-Chip Methods
Introduction to BioMEMS & Medical Microdevices DNA Microarrays and Lab-on-a-Chip Methods Companion lecture to the textbook: Fundamentals of BioMEMS and Medical Microdevices, by Prof., http://saliterman.umn.edu/
More informationWhat is genetic variation?
enetic Variation Applied Computational enomics, Lecture 05 https://github.com/quinlan-lab/applied-computational-genomics Aaron Quinlan Departments of Human enetics and Biomedical Informatics USTAR Center
More informationChapter 15 Gene Technologies and Human Applications
Chapter Outline Chapter 15 Gene Technologies and Human Applications Section 1: The Human Genome KEY IDEAS > Why is the Human Genome Project so important? > How do genomics and gene technologies affect
More informationTestimony of Christopher Newton-Cheh, MD, MPH Volunteer for the American Heart Association
Testimony of Christopher Newton-Cheh, MD, MPH Volunteer for the American Heart Association Before the House Energy and Commerce Subcommittee on Health 21st Century Cures: Examining the Regulation of Laboratory
More informationLECTURE 12: INSIGHTS FROM GENOME SEQUENCING
LECTURE 12: INSIGHTS FROM GENOME SEQUENCING Read Chapter 10 (p366-375) DOE s Genomics and its implications (link at course website) STS (p359), SNP, SSR (integrates the following) Linkage, Physical, Sequence
More informationTarget Enrichment Strategies for Next Generation Sequencing
Target Enrichment Strategies for Next Generation Sequencing Anuj Gupta, PhD Agilent Technologies, New Delhi Genotypic Conference, Sept 2014 NGS Timeline Information burst Nearly 30,000 human genomes sequenced
More informationDNA Mixture Interpretation Workshop Dr Chris Maguire. Identification and resolution of DNA mixtures
DNA Mixture Interpretation Workshop Dr Chris Maguire Identification and resolution of DNA mixtures Introduction Mixture analysis models Pros & Cons Recognizing a DNA Mixture Extra peaks Peak imbalance
More informationApplications and Uses. (adapted from Roche RealTime PCR Application Manual)
What Can You Do With qpcr? Applications and Uses (adapted from Roche RealTime PCR Application Manual) What is qpcr? Real time PCR also known as quantitative PCR (qpcr) measures PCR amplification as it
More informationGenetics Lecture 16 Forensics
Genetics Lecture 16 Forensics DNA Forensics Genetics is arguably the most influential science today dramatically affecting technologies in fields as diverse as agriculture, archaeology, medical diagnosis,
More informationTowards detection of minimal residual disease in multiple myeloma through circulating tumour DNA sequence analysis
Towards detection of minimal residual disease in multiple myeloma through circulating tumour DNA sequence analysis Trevor Pugh, PhD, FACMG Princess Margaret Cancer Centre, University Health Network Dept.
More informationMRC-Holland MLPA. Description version 05; 31 August 2017
mix P318-A2 Hirschsprung-2 Lot A2-0614. Compared to version A1 (lot A1-1009), the control fragments have been changed (QDX2) and some lengths have been adjusted. Hirschsprung disease is the main cause
More informationPersonal Genomics Platform White Paper Last Updated November 15, Executive Summary
Executive Summary Helix is a personal genomics platform company with a simple but powerful mission: to empower every person to improve their life through DNA. Our platform includes saliva sample collection,
More informationTranslating Droplet Digital PCR into Clinical Use. Christopher Campbell West Midlands Regional Genetics Laboratory
Translating Droplet Digital PCR into Clinical Use Christopher Campbell West Midlands Regional Genetics Laboratory Introduction to digital PCR Applications in the West Midlands Regional Genetics Laboratory
More informationCytoScan Cytogenetics Suite
CytoScan Cytogenetics Suite 1. What is CytoScan Cytogenetics Suite? CytoScan Cytogenetics Suite consists of CytoScan arrays and CytoScan Reagent Kit, GeneChip Command Console Software (AGCC), and Chromosome
More informationSTUDY OF VNTR HUMAN POLYMORPHISMS BY PCR
STUDY OF VNTR HUMAN POLYMORPHISMS BY PCR Ref. PCR1 1. OBJECTIVE OF THE EXPERIMENT The objective of this experiment is to introduce students to the principles and practice of Polymerase Chain Reaction (PCR)
More informationRelative Fluorescent Quantitation on Capillary Electrophoresis Systems:
Application Note Relative Fluorescent Quantitation on the 3130 Series Systems Relative Fluorescent Quantitation on Capillary Electrophoresis Systems: Screening for Loss of Heterozygosity in Tumor Samples
More informationEvaluation of the Autogen FlexSTAR automated DNA extractor, for suitability in routine diagnostic use
Evaluation of the Autogen FlexSTAR automated DNA extractor, for suitability in routine diagnostic use Performed by Dr H Martin, E Gee, G Flavell and S Marshall 2015 Initial machine evaluation Aim: To extract
More informationDaily Agenda. Make Checklist: Think Time Replication, Transcription, and Translation Quiz Mutation Notes Download Gene Screen for ipad
Daily Agenda Make Checklist: Think Time Replication, Transcription, and Translation Quiz Mutation Notes Download Gene Screen for ipad Genetic Engineering Students will be able to exemplify ways that introduce
More informationHot Topic. Disclosures. None
Hot Topic Multiple Myeloma Testing at Mayo Medical Laboratories HOT TOPIC / 2017 MFMER 1 Our speaker for this program is Dragan Jevremovic, MD, PhD Assistant Professor, Division of Hematopathology at Mayo
More informationSTR Profiling Matching Criteria: Establishment and Importance of a Cell Line Database
STR Profiling Matching Criteria: Establishment and Importance of a Cell Line Database Margaret Kline Applied Group Biochemical Science Division Chemical Science and Technology Laboratory National Institute
More informationHow about the genes? Biology or Genes? DNA Structure. DNA Structure DNA. Proteins. Life functions are regulated by proteins:
Biology or Genes? Biological variation Genetics This is what we think of when we say biological differences Race implies genetics Physiology Not all physiological variation is genetically mediated Tanning,
More informationProblem Set 2B Name and Lab Section:
Problem Set 2B 9-26-06 Name and Lab Section: 1. Define each of the following rearrangements (mutations) (use one phrase or sentence for each). Then describe what kind of chromosomal structure you might
More informationMidterm 1 Results. Midterm 1 Akey/ Fields Median Number of Students. Exam Score
Midterm 1 Results 10 Midterm 1 Akey/ Fields Median - 69 8 Number of Students 6 4 2 0 21 26 31 36 41 46 51 56 61 66 71 76 81 86 91 96 101 Exam Score Quick review of where we left off Parental type: the
More informationGen e e n t e i t c c V a V ri r abi b li l ty Biolo l gy g Lec e tur u e e 9 : 9 Gen e et e ic I n I her e itan a ce
Genetic Variability Biology 102 Lecture 9: Genetic Inheritance Asexual reproduction = daughter cells genetically identical to parent (clones) Sexual reproduction = offspring are genetic hybrids Tendency
More informationPhiladelphia University Faculty of Science Department of Biotechnology and Genetic Engineering Winter Semester, 2009/2010.
Philadelphia University Faculty of Science Department of Biotechnology and Genetic Engineering Winter Semester, 2009/2010 Course Syllabus Course Title: Human Genetics Course Level: Third year Lecture Time:
More informationIntroductie en Toepassingen van Next-Generation Sequencing in de Klinische Virologie. Sander van Boheemen Medical Microbiology
Introductie en Toepassingen van Next-Generation Sequencing in de Klinische Virologie Sander van Boheemen Medical Microbiology Next-generation sequencing Next-generation sequencing (NGS), also known as
More informationAnswers to additional linkage problems.
Spring 2013 Biology 321 Answers to Assignment Set 8 Chapter 4 http://fire.biol.wwu.edu/trent/trent/iga_10e_sm_chapter_04.pdf Answers to additional linkage problems. Problem -1 In this cell, there two copies
More information