《自然》[Nature]13年9月12日出版pdf全文

孙弘博

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Genetic sequencing has established itself as a powerful tool for
( D/ ~$ h" G+ i- C% Fdiagnosis, but it is not yet clear how useful it will be for disease
! R0 T) ?7 @( Z0 T+ Oprevention or health management. A US$25-million project3 u2 l' c0 d; c( i3 i
announced last week aims to explore that issue in perhaps the most
. Q' n* |# o* C& hhigh-stakes patient group: newborn babies.
( \* x7 z, Z* Y3 I. iIn the Genomic Sequencing and Newborn Screening Disorders- ~' {- g! f: {% o/ y( o4 N
(GSNSD) programme, four teams will sequence the exomes — the
# N6 Q: e4 }7 L: @2 l5 D1 x/ Nprotein-coding portions of the genome — or the whole genomes of
; E% T! P& U1 E, Y" k3 k* D  kmore than 1,500 babies, including not only infants who are ill, whether+ P0 |, v7 y  e3 b. I
or not the disease has been diagnosed, but also healthy babies. The
% _% P7 R/ q: E) ]3 \programme is funded by the US National Human Genome Research
+ v; Y" v' V5 m9 {Institute and the Eunice Shriver Kennedy National Institute of Child
- ^* j9 a3 O* V. u7 i2 E6 A* G: |Health and Human Development (NICHD). The studies will examine
4 n; o1 r( Z! W7 F, G* Khow useful sequencing information is for families and doctors, and
, Y1 M  d9 u) U) e! M0 [whether it is superior to data gathered through conventional newbornscreening
* M. `- [  t7 nmethods, which check for about 60 genetic disorders.. [; Z. q8 N( r( }. i4 @9 O
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孙弘博

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wanggongyu

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小干

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bobobuwa

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懵懂干细胞

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462266759

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