Fig. S3 Human genome consensus coding sequence

Slides:



Advertisements
Similar presentations
Diagnosis with PCR This is a preparation of DNA. We zoomed in a portion of a gene. We know that two primers, Forward and Reverse, will hybridize at specific.
Advertisements

RAPD Randomly Amplified Polymorphic DNA
Mutations. Definition mutation A mutation is a change in an organism’s DNA – Silent mutations are changes that do not result in a change to the organisms.
Predicting the Function of Single Nucleotide Polymorphisms Corey Harada Advisor: Eleazar Eskin.
Genetics-multistep tumorigenesis genomic integrity & cancer Sections from Weinberg’s ‘the biology of Cancer’ Cancer genetics and genomics Selected.
YUEMIN DING Neuro-oncology Group Department of Molecular Neuroscience
Review of Protein Synthesis. Fig TRANSCRIPTION TRANSLATION DNA mRNA Ribosome Polypeptide (a) Bacterial cell Nuclear envelope TRANSCRIPTION RNA PROCESSING.
Introduction A mutation is a change in the normal DNA sequence. They are usually neutral, having no effect on the fitness of the organism. Sometimes,
PCR Y.Martinez, LSHS, 2014 DIRECTIONS: COPY NOTES IN ORANGE.
Chapter 11 Review. Explain the difference between each of the following 1. Operator, promoter -Operator: DNA segment where an inhibitor protein binds.
INTERPRETING GENETIC MUTATIONAL DATA FOR CLINICAL ONCOLOGY Ben Ho Park, M.D., Ph.D. Associate Professor of Oncology Johns Hopkins University May 2014.
Visualization of genomic data Genome browsers. UCSC browser Ensembl browser Others ? Survey.
Schematic of Eukaryotic Protein-Coding Locus
Date of download: 6/22/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Identification of a Novel TP53 Cancer Susceptibility.
Margaret L. Gulley, Thomas C. Shea, Yuri Fedoriw 
Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis  Philippe Szankasi, David.
Figure 1. RT–PCR identification of an abnormal transcript of the PTPN6 gene in normal and leukemic bone marrow cells and cell line. (a) Diagrammatic representation.
Lesson Four Structure of a Gene.
Molecular mechanism of mutation
Lesson Four Structure of a Gene.
MBD-Chip.
Experimental Verification Department of Genetic Medicine
Bio 211 d16 DNA!.
Chapter 4 “DNA Finger Printing”
A Targeted High-Throughput Next-Generation Sequencing Panel for Clinical Screening of Mutations, Gene Amplifications, and Fusions in Solid Tumors  Rajyalakshmi.
Gene Editing Design Demo
Follicular lymphoma with a novel t(14;18) breakpoint involving the immunoglobulin heavy chain switch mu region indicates an origin from germinal center.
Margaret L. Gulley, Thomas C. Shea, Yuri Fedoriw 
DNA Polymorphisms: DNA markers a useful tool in biotechnology
Mutations changes in the DNA sequence that can be inherited
Isotype-switched immunoglobulin genes with a high load of somatic hypermutation and lack of ongoing mutational activity are prevalent in mediastinal B-cell.
Annotation of Sequence Variants in Cancer Samples
Philippe Szankasi, Mohamed Jama, David W. Bahler 
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T by Catia Attanasio, Philippe de Moerloose,
Annotation of Sequence Variants in Cancer Samples
Genomic alterations in breast cancer cell line MDA-MB-231.
Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations  Ayman El-Seedy, Tony Dudognon, Frédéric.
Sequencing of t(2;7) Translocations Reveals a Consistent Breakpoint Linking CDK6 to the IGK Locus in Indolent B-Cell Neoplasia  Edward P.K. Parker, Reiner.
“TaqMan genotyping Assay’’
Uterine metastasis of lung adenocarcinoma revealed by the same epidermal growth factor receptor mutation in both lung and endometrial biopsies  Noriko.
Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis  Philippe Szankasi, David.
Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.
Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease  Alberto Auricchio, Paola.
Analysis of Rare APC Variants at the mRNA Level
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease  Silvia Albert, Alejandro.
Supplemental Figure 3 A B C T-DNA 1 2 RGLG1 2329bp 3 T-DNA 1 2 RGLG2
BLAT Blast Like Alignment Tool
Volume 2, Issue 2, Pages (August 1998)
Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.
A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease  Carolyn Tysoe, Joanne Whittaker, John.
Germline Epigenetic Silencing of the Tumor Suppressor Gene PTPRJ in Early-Onset Familial Colorectal Cancer  Ramprasath Venkatachalam  Gastroenterology 
Mutations.
.1Sources of DNA and Sequencing Methods 2 Genome Assembly Strategy and Characterization 3 Gene Prediction and Annotation 4 Genome Structure 5 Genome.
A B C D G G/A Figure 1. Sequencing reveals mosaicism for point mutation. A. Sequencing shows a homozygous c.862 G>A mutation in the DNA from tumor of unilaterally.
Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome  Hiroshi Yoshihashi, Katsuhiro Maeyama, Rika Kosaki, Tsutomu.
DNA Profiling Vocabulary
Wook Lew  Journal of Investigative Dermatology 
Comprehensive Characterization of a Novel Intronic Pseudo-Exon Inserted within an e14/a2 BCR-ABL Rearrangement in a Patient with Chronic Myeloid Leukemia 
circRNA prediction, sequence determination, and validation.
Production of Mapk14 and Mapk7 KO cells.
Activation of MET by Gene Amplification or by Splice Mutations Deleting the Juxtamembrane Domain in Primary Resected Lung Cancers  Ryoichi Onozato, MD,
Fig. 2. Validating the efficiency of smc3 MOs
Cancer mutations in enriched RBP motifs.
Fig. 4 Gene disruption via chip.
Genomic structure of LTBP-4 around the 3rd 8-Cys repeat.
Amplicon sequencing analysis of on-target sites in trβ crispants
Mutations in CHEK2 Associated with Prostate Cancer Risk
Structure of the IFL1 Gene and the Nature of the Mutations in the ifl1 Alleles.(A) A schematic representation of the exon and intron organization of the.
Mutation of the Ca2+ Channel β Subunit Gene Cchb4 Is Associated with Ataxia and Seizures in the Lethargic (lh) Mouse  Daniel L Burgess, Julie M Jones,
Figure Genetic characterization of the novel GYG1 gene mutation (A) GYG1_cDNA sequence and position of primers used. Genetic characterization of the novel.
Presentation transcript:

Fig. S3 Human genome consensus coding sequence ABCB8, ABCB10 28 exons Design primers for PCR amplification, HA analysis and direct sequencing of coding exons and intron-exon boundaries 8511 bp target sequences 24 primer pairs PCR amplification of 94 leukemia DNA samples 0.85 Mb total cancer sequences Direct sequencing When multiple SNPs are known in one exon Heteroduplex analysis Sequence samples with aberrant HA peaks (by universal M13 primers) 246 known SNPs observed 47 putative mutations observed 0 not present in remission samples/T cells/donors 68 frequency different from database 13 missense Validate in remission samples, cultured T cells or donor samples 13 present in T cells /donors /remission samples 21 new exonic changes 7 present in in remission samples/T cells/donors 8 silent 178 frequency same as database 1 undetermined to be somatic or germline 0 within 15 bases from exon-intron boundary 26 new intronic changes 26 not within 15 bases from exon-intron boundary