Helen V. Firth, Shola M. Richards, A

Slides:

Advertisements

Similar presentations

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

Advertisements

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

National Guidelines for Nursing Delegation

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Volume 385, Issue 9975, Pages (April 2015)

Jennifer J. Johnston, Katie L. Lewis, David Ng, Larry N

A Locus on Chromosome 1p36 Is Associated with Thyrotropin and Thyroid Function as Identified by Genome-wide Association Study Vijay Panicker, Scott G.

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Krina Zondervan, Lon Cardon, Ph.D., Stephen Kennedy, M.D.

High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization Xiaoxiao Zhang, Antoine.

Yu Jiang, Glen A. Satten, Yujun Han, Michael P. Epstein, Erin L

Kathryn B. Garber, Lisa M. Vincent, John J. Alexander, Lora J. H

Linkage Thresholds for Two-stage Genome Scans

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number- Variable Region at Chromosome 4p16 Irina Balikova, Kevin Martens, Cindy Melotte,

A Combined Linkage-Physical Map of the Human Genome

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

Genetics, Individuality, and Medicine in the 21st Century*

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.

The American Journal of Human Genetics

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger Anurag Verma,

Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris

GeneTests: Integrating Genetic Services into Patient Care*

Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data Gao T. Wang, Bo Peng, Suzanne M. Leal The.

Kristina Allen-Brady, Peggy A. Norton, James M

PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases Toyofumi Fujiwara, Yasunori Yamamoto, Jin-Dong Kim,

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome Damien Lederer, Bernard Grisart, Maria Cristina.

A Weighted False Discovery Rate Control Procedure Reveals Alleles at FOXA2 that Influence Fasting Glucose Levels Chao Xing, Jonathan C. Cohen, Eric Boerwinkle

Gail P. Jarvik, Brian L. Browning

Dan-Yu Lin, Zheng-Zheng Tang The American Journal of Human Genetics

Erratum The American Journal of Human Genetics

Quan Li, Kai Wang The American Journal of Human Genetics

A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions A. Cecile.

No expectation to share incidental findings in genomic research

Integration of Genomic Medicine into Pathology Residency Training

Wei Pan, Il-Youp Kwak, Peng Wei The American Journal of Human Genetics

Victor Almon McKusick, MD, 1921–2008, In Memoriam

L-GATOR: Genetic Association Testing for a Longitudinally Measured Quantitative Trait in Samples with Related Individuals Xiaowei Wu, Mary Sara McPeek

A Second Recombination Hotspot Associated with SHOX Deletions

Psoriasis Genetics: The Way Forward

Discussion The Journal of Thoracic and Cardiovascular Surgery

American Journal of Kidney Diseases

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction Margit Schraders,

Monitoring vascular surgical performance

Anupama Srinivasan, Diana W. Bianchi, Hui Huang, Amy J

Alice S. Whittemore, Jerry Halpern

Kathleen A. Daly, W. Mark Brown, Fernando Segade, Donald W

Zuoheng Wang, Mary Sara McPeek The American Journal of Human Genetics

A Chromosomal Deletion Map of Human Malformations

On Genome-wide Association Studies for Family-Based Designs: An Integrative Analysis Approach Combining Ascertained Family Samples with Unselected Controls

Presentation transcript:

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter The American Journal of Human Genetics Volume 84, Issue 4, Pages 524-533 (April 2009) DOI: 10.1016/j.ajhg.2009.03.010 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Overview of DECIPHER The DECIPHER database is accessed via the World Wide Web so that patient phenotypic and genomic information can be deposited in a secure and private project areas by consortium members. Interaction with bioinformatic tools allows clinicians and scientists to interpret the genomic information. With informed consent, data become viewable within the Ensembl genome browser so that patients with overlapping copy-number changes can be readily identified. The American Journal of Human Genetics 2009 84, 524-533DOI: (10.1016/j.ajhg.2009.03.010) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Searching the Genome by Phenotype Using the phenotype search term “cleft palate” generates an ideogram (below) and list of all the consenting patients that DECIPHER knows to have cleft palate and displays their genomic aberrations. Two clusters, one on 1q and the other on 5q, are seen together. The American Journal of Human Genetics 2009 84, 524-533DOI: (10.1016/j.ajhg.2009.03.010) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 DECIPHER Syndrome Report for 8p23.1 Deletion Syndrome Detailed information about known syndromes is maintained by expert advisors within DECIPHER. The copy-number change is displayed on a ideogram (1), in a genome browser showing normal copy-number variants (2), and with links to OMIN (3) and Ensembl (4). The American Journal of Human Genetics 2009 84, 524-533DOI: (10.1016/j.ajhg.2009.03.010) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 Patient Images (A) Case 1. (B) Case 2. (C) Case 3. The American Journal of Human Genetics 2009 84, 524-533DOI: (10.1016/j.ajhg.2009.03.010) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 5 International Collaboration through DECIPHER New syndromes defined with the help of DECIPHER: 17q21.327 in 2006, 14q11.224 in 2007, and 19q13.1144 in 2009. The American Journal of Human Genetics 2009 84, 524-533DOI: (10.1016/j.ajhg.2009.03.010) Copyright © 2009 The American Society of Human Genetics Terms and Conditions