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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Michael Gonzalez1, Marni J Falk2, Xiaowu Gai3

  • 1The Genesis Project Inc, Miami, Florida, 33136.

Human Mutation
|July 16, 2015
PubMed
Summary
This summary is machine-generated.

GENESIS, formerly GEM.app, is a collaborative platform that has facilitated over 60 Mendelian disease gene discoveries. Its user-driven data sharing connects researchers globally, accelerating genetic research and patient diagnosis.

Keywords:
Mendelian diseasedata sharingexomematchmaker exchangenext-generation sequencing

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Area of Science:

  • Genomics
  • Bioinformatics
  • Medical Genetics

Background:

  • Next-generation sequencing accelerates Mendelian disease gene discovery.
  • Challenges exist in analyzing and sharing large genomic datasets.
  • The collaborative web-based GEM.app software was previously introduced to address these challenges.

Purpose of the Study:

  • To present results from nearly 3 years of GEM.app usage.
  • To introduce the next generation of the platform, now named GENESIS.
  • To highlight the impact of user-driven data sharing on gene discovery.

Main Methods:

  • GENESIS (formerly GEM.app) is a collaborative, web-based platform.
  • It facilitates user-driven data sharing and matchmaking among researchers.
  • The platform has grown to nearly 600 registered users from 44 countries.

Main Results:

  • GENESIS has been instrumental in 62 gene identifications or studies expanding phenotype/genotype correlations.
  • User-driven data sharing is the primary driver of gene discoveries within the platform.
  • Global researcher collaboration through GENESIS has led to pinpointing specific gene mutations causing diseases.

Conclusions:

  • GENESIS (GEM.app) has evolved into a significant tool for genomic research.
  • The platform's data-sharing capabilities foster international collaboration.
  • GENESIS empowers researchers and connects patients/clinicians to genomic information, advancing rare disease research.