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    Whole genome sequencing of a family - predicting the future?
    By Becky Jungbauer | September 15th 2011 09:02 PM | 2 comments | Print | E-mail | Track Comments
    About Becky

    A scientist and journalist by training, I enjoy all things science, especially science-related humor. My column title is a throwback to Jane

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    Although genetic sequencing sounded exciting - I'll send you a tube full of spit, you tell me what diseases I'm going to get - the reality was less thrilling, and less useful. There are diseases with very specific and even single mutations, but the big 'uns - cardiovascular disease, cancer, diabetes - are more tangled and complicated than trying to find a redeeming quality in a Kardashian. 
    Even with the ethical dilemmas involved and murky predictability, I still think the potential is fascinating. A story on the whole genome of a family of four, and how the research predicted the daughter's risk of blood clots and a warning against possible preventive pharmacological intervention, caught my eye.

    The dad had two pulmonary embolisms in 2003, and later tests showed a mutation on the Factor V gene that increases the risk of blood clots. His daughter has the same mutation, plus a few others that not only put her at risk for embolism but also inherited thrombophilia (although that one's controversial). Yet they also found that the daughter and mother would have a higher bleeding risk from using the blood thinner Plavix - which could have been prescribed if the daughter ever developed a thrombosis. 

    Others can speak more eloquently than I about the merits and challenges with this paper, but I thought it was an interesting story and wanted to share.

    Here's the Wall Street Journal article and here's the PLoS Genetics article.

    Comments

    Respected Nobel lauraete,
    My hearty congratulations
    Kindly excuse me for my interference,
    Some decrease in immuno resistivity has been interpreted by the palm print biometric holography indicated by the health line with islanded formation breaking the life of Thenar line which has been omitted by all the Nobel laureates of Medicine which requires more attention as it deserves.Energy has been building within millions of neurons from the beginning of zygotic rendezvous sizzling with electrical energy there by supporting microglia cells of of the nerve cell dentries by an increasing exponential cell simulating new synaptic connections and the increasing level of neuro-modulators definitely know the declining immuno resistivity wel in advance definitely well in advance as confirm in case of Mary Leiter former Vicerene of INdia ,wife of Lord Nathaniel Curzon as predicted by Cheiro ,the palmist even during their first interview at Newyork.She was predicted short ,but brilliant life.
    Further an islanded formation at the end of life line noticed in case of future cancerous cell growth This information was given long back to former Nobel laureate Tonegava of M.I.T. a brain knows everything well in advance.
    Even the brain line separate with branches towards the Jupiter hologram points indicate increasing activity of NGF growth.
    The pity is there was not a single feedback from him out of pride and prejudice that normally prevail in education communities now days
    There was only one exception Mrs ,Adayonath ,nobel laureate of Weizman Research institute ,Israel ,the gentle director of molecular biology ,the civilized inheritance I will never forget.
    Dear sir,
    we have to go still a long way.
    Sankaravelayudhan nandakumar,Oxford astrogeneticist,Assistant Professor,Pneumatics lab ,MET Enginering college ,Research member ,Hubble Telescope.
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    tonegawa@mit.edu

    Genes may be subjected diagonal principal ,principle shear stresses which
    > may be dual diagonally matrices activated by water affine gravity waves
    > in the case of W.T.Stead exactly by April 15 initiated the catastrophe
    > theory which requires water affine genetic investigation which is
    > comparable with a water diviner man who finds out water under the earth an
    > information is worth for a nobel prize work.
    > The theory water dynamics opposing fire-air dynamics was fullfilled on
    > April15.1912. in hydr-Pneumatical dynamical systems of space that will
    > become the future phd works in hydro=pneumatic applications..
    > This also happened in case of Field Marshall Lord Kirchner naval
    > commander of England who was drowned in the ship Hampshire who was born on
    > June-July with a cross at the end of travel line as per his palm print.
    >