Presentation is loading. Please wait.

Presentation is loading. Please wait.

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis  Zehra Ordulu,

Published byClifford Perry Modified over 5 years ago

Similar presentations

Presentation on theme: "Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis  Zehra Ordulu,"— Presentation transcript:

1 Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis  Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E. Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise E. Wilkins-Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton  The American Journal of Human Genetics  Volume 99, Issue 5, Pages (November 2016) DOI: /j.ajhg Copyright © 2016 American Society of Human Genetics Terms and Conditions

2 Figure 1 Developmental Genes with Well-Known Long-Range Regulations
Schematic diagrams of representative developmental genes with well-known long-range regulations in relation to their TAD (red box) and TBR (dark-red vertical line if 0 bp or gray box if greater than 0 bp) annotations (genes in red: haploinsufficiency index < 10%). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

3 Figure 2 Diagrams of DGAP239, DGAP247, DGAP248, and DGAP258 Rearrangements Schematic diagrams of the breakpoints of DGAP239 (A), DGAP247 (B), DGAP248 (C), and DGAP258 (D) in relation to their TAD (red box) and TBR (dark-red vertical line if 0 bp or gray box if greater than 0 bp) annotations (genes in red: haploinsufficiency index < 10%). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

4 Figure 3 Diagrams of DGAP259 Rearrangements
Schematic diagrams of the breakpoints of DGAP259 in relation to their TAD (red box) and TBR (dark-red vertical line if 0 bp or gray box if greater than 0 bp) annotations (genes in red: haploinsufficiency index < 10%). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

5 Figure 4 Diagrams of DGAP268, DGAP285, DGAP288, DGAP290, and DGAP290 Rearrangements Schematic diagrams of the breakpoints of DGAP268 (A), DGAP285 (B), DGAP288 (C), DGAP290 (D), and DGAP290 (E) in relation to their TAD (red box) and TBR (dark-red vertical line if 0 bp or gray box if greater than 0 bp) annotations (genes in red: haploinsufficiency index < 10%; green: imprinted). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

6 Figure 5 SOX9 Expression of DGAP288
Decreased expression of SOX9 in the chorionic villus sample (CVS) of DGAP288 in comparison to three CVS controls (three different primer sets were used for the expression assessment of exons 1 and 2 out of 3, normalized to GAPDH). Error bars represent the SE of the normalized ratios. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 American Society of Human Genetics Terms and Conditions

Download ppt "Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis  Zehra Ordulu,"

Similar presentations

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

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

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.

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 232-237 (January.

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.
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay Valerie A.
Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

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,

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.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea  Fernando L. Mendez, Joseph C.
Katarzyna Bryc, Eric Y. Durand, J

Katarzyna Bryc, Eric Y. Durand, J
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
A Strategy to Find Suitable Reference Genes for miRNA Quantitative PCR Analysis and Its Application to Cervical Specimens  Iris Babion, Barbara C. Snoek,

A Strategy to Find Suitable Reference Genes for miRNA Quantitative PCR Analysis and Its Application to Cervical Specimens  Iris Babion, Barbara C. Snoek,
Haley J. Abel, Hussam Al-Kateb, Catherine E. Cottrell, Andrew J

Haley J. Abel, Hussam Al-Kateb, Catherine E. Cottrell, Andrew J
Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.

Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.
Β-Glucuronidase Is an Optimal Normalization Control Gene for Molecular Monitoring of Chronic Myelogenous Leukemia  Joong Won Lee, Qiaofang Chen, Daniel.

Β-Glucuronidase Is an Optimal Normalization Control Gene for Molecular Monitoring of Chronic Myelogenous Leukemia  Joong Won Lee, Qiaofang Chen, Daniel.
Jacek Majewski  The American Journal of Human Genetics 

Jacek Majewski  The American Journal of Human Genetics 
Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia  Natalie Cope, Denise Harold, Gary Hill, Valentina.

Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia  Natalie Cope, Denise Harold, Gary Hill, Valentina.

Similar presentations

Ads by Google