Developing the "next generation" of genetic association databases for complex diseases.

نویسندگان

  • Christina M Lill
  • Lars Bertram
چکیده

Tens of thousands of genetic association studies investigating the influence of common polymorphisms on disease susceptibility have been published to date. These include ∼1,000 genome-wide association studies (GWAS). This vast amount of data in the field of complex genetics is becoming increasingly difficult to follow and interpret. It can be expected that the situation will become even more complex with the advent of association projects using "next-generation" technologies. One of the aims of the Human Variome Project is to concatenate such data in meaningful ways, for example, within the context of publicly available field synopses. Here, we present various examples of online genetic association databases developed by our group for neuropsychiatric disorders. One integral part of this model is the systematic inclusion of data from large-scale genotyping projects, for example, GWAS, while respecting the privacy of data contributors. We believe that our database approach may serve as a viable model that can be readily applied to other fields and ultimately improve our understanding of the genetic forces driving common human conditions.

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

Genome Wide Association Studies, Next Generation Sequencing and Their Application in Animal Breeding and Genetics: A Review

Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

متن کامل

Single Nucleotide Polymorphisms and Association Studies: A Few Critical Points

Uncovering DNA sequence variations that correlate with phenotypic changes, e.g., diseases, is the aim of sequence variation studies. Common types sequence variations are Single nucleotide polymorphism (SNP, pronounced snip).SNPs are the third-generation molecular marker. SNP represents a DNA sequence variant of a single base pair with the minor allele occurring in more than 1% of a given popula...

متن کامل

Next Generation Sequencing and its Application in the Study of Microbiome in Plant Diseases Suppressive Soils

Progress in next-generation sequencing has played a significant role in ecological studies of microbial populations. These advances have led to a rapid evaluation in metagenomics studies (analysis of DNA of microbial communities without the need to culture). Many statistical and computational tools and metagenomics databases have led to the discovery of huge amounts of data. In this research, i...

متن کامل

Review on the role of host genetic factors in the susceptibility to SARS-CoV-2

Background: Severe acute respiratory system Cov-2 pandemic has affected the world populations for more than one year. Different incidence and severity of this viral disease among various age range and individuals with different background disease may indicate the pivotal role of host genetic factors in their prevalence and mortality rate. In this regards, present study was performed to review t...

متن کامل

SEQMINER: An R‐Package to Facilitate the Functional Interpretation of Sequence‐Based Associations

Next-generation sequencing has enabled the study of a comprehensive catalogue of genetic variants for their impact on various complex diseases. Numerous consortia studies of complex traits have publically released their summary association statistics, which have become an invaluable resource for learning the underlying biology, understanding the genetic architecture, and guiding clinical transl...

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:
  • Human mutation

دوره 33 9  شماره 

صفحات  -

تاریخ انتشار 2012