Next-generation carrier screening: are we ready?
Next-generation carrier screening: are we ready?
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DOI:
10.1186/s13073-014-0062-x
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发表时间:
2014
期刊:
影响因子:
12.3
通讯作者:
Prior TW
中科院分区:
文献类型:
--
作者:
Prior TW
Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues.
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DOI:
10.1097/01.gim.0000139506.11694.7c
发表时间:
2004-09
期刊:
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子:
--
作者:
Watson MS;Cutting GR;Desnick RJ;Driscoll DA;Klinger K;Mennuti M;Palomaki GE;Popovich BW;Pratt VM;Rohlfs EM;Strom CM;Richards CS;Witt DR;Grody WW
通讯作者:
Grody WW
DOI:
10.1038/gim.2013.83
发表时间:
2014-02
期刊:
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子:
--
作者:
通讯作者:
--
影响因子:
120.7
作者:
Castellani, Carlo;Picci, Luigi;Assael, Baroukh Maurice
通讯作者:
Assael, Baroukh Maurice
影响因子:
17.1
作者:
Bell CJ;Dinwiddie DL;Miller NA;Hateley SL;Ganusova EE;Mudge J;Langley RJ;Zhang L;Lee CC;Schilkey FD;Sheth V;Woodward JE;Peckham HE;Schroth GP;Kim RW;Kingsmore SF
通讯作者:
Kingsmore SF