Literature DB >> 22003332

New technologies for integrating genomic, environmental and trait data.

George M Church1.   

Abstract

Rare diseases, which (by definition) occur at a frequency less than 1/2000 per allele - are individually rare, yet common collectively (10% affected and 50% carrier rates). There are 1800 genes which have tests considered highly predictive and actionable. Human genes with known variants causing insomnia, narcolepsy, and circadian variation include Prion Protein Fatal Familial Insomnia (PRNP), hypocretin (HCRT), DQ beta 1 (DQB1), and period circadian protein homolog (PER2). We have developed human genome sequencing technology that lowered costs a million-fold over the past 6 yr. This has increasingly enabled the use of the causative alleles above, which are far more valuable than merely correlated or common variants. To expand this further we have established community resources for open access collection, integration and interpretation of diverse personal genomic, environmental and trait data evidence.personalgenomes.org).

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Mesh:

Year:  2011        PMID: 22003332      PMCID: PMC3190421          DOI: 10.5664/JCSM.1362

Source DB:  PubMed          Journal:  J Clin Sleep Med        ISSN: 1550-9389            Impact factor:   4.062


  5 in total

1.  Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred.

Authors:  Giuseppe Plazzi; Pasquale Montagna; Manolo Beelke; Lino Nobili; Fabrizio De Carli; Pietro Cortelli; Stefano Vandi; Patrizia Avoni; Paolo Tinuper; Pierluigi Gambetti; Elio Lugaresi; Franco Ferrillo
Journal:  Clin Neurophysiol       Date:  2002-12       Impact factor: 3.708

2.  An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

Authors:  K L Toh; C R Jones; Y He; E J Eide; W A Hinz; D M Virshup; L J Ptácek; Y H Fu
Journal:  Science       Date:  2001-02-09       Impact factor: 47.728

3.  A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.

Authors:  C Peyron; J Faraco; W Rogers; B Ripley; S Overeem; Y Charnay; S Nevsimalova; M Aldrich; D Reynolds; R Albin; R Li; M Hungs; M Pedrazzoli; M Padigaru; M Kucherlapati; J Fan; R Maki; G J Lammers; C Bouras; R Kucherlapati; S Nishino; E Mignot
Journal:  Nat Med       Date:  2000-09       Impact factor: 53.440

4.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

5.  A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.

Authors:  Je-Hyuk Lee; In-Hyun Park; Yuan Gao; Jin Billy Li; Zhe Li; George Q Daley; Kun Zhang; George M Church
Journal:  PLoS Genet       Date:  2009-11-13       Impact factor: 5.917

  5 in total

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