Discovering the Genetics of Complex Disorders Through Integration of Genomic Mapping and Transcriptional Profiling

نویسندگان

  • Robert S. Danziger
  • Ming You
  • Huda Akil
چکیده

Discovering the genes that contribute to complex polygenic diseases represents a significant challenge. Investigating the structural genetic variations associated with these disorders may not be sufficiently informative about vulnerability genes modulated by the environment. Characterizing gene expression patterns does not identify the primary differences in gene structure. The convergence of global screening of gene expression patterns with extensive structural genomic information may be necessary to identify the gene clusters that contribute to these pervasive diseases. These integrative efforts, though promising, are in their early phases and will require further refinement.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

I-44: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...

متن کامل

O-38: Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...

متن کامل

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify...

متن کامل

Association mapping for resistance to powdery mildew in oriental tobacco (Nicotiana tabaccum L.) germplasm

Powdery mildew caused by Erysiphe cichoracearum is an important fungal disease which threatens tobacco (Nicotiana tabacum L.) production. The objective of this study was to determine DNA markers linked to genomic regions associated with resistance to powdery mildew in tobacco through the association mapping approach. Seventy tobacco geno-types were fingerprinted using 26 simple se-quence repeat...

متن کامل

I-10: Transcriptomics in Oocyte Mediated Cellular Reprogramming

a:4:{s:10:"Background";s:1707:"Early embryonic development in mammals begins in transcriptional silence with an oocyte-mediated transcriptional reprogramming of parental gametes occurs during a so called across-the-board process of “erase-and-rebuild”. In this process, the parental transcription programs are erased long before (maternal) or soon thereafter (paternal) fertilization to generate a...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2004