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The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
被引:162
|作者:
Monaghan, Kristin G.
[1
]
Leach, Natalia T.
[2
]
Pekarek, Dawn
[3
]
Prasad, Priya
[4
]
Rose, Nancy C.
[5
]
机构:
[1] GeneDx, Gaithersburg, MD USA
[2] Lab Corp Amer, Integrated Genet, Westborough, MA USA
[3] Ochsner Hlth Syst, Dept Obstet & Gynecol, New Orleans, LA USA
[4] Wayne State Univ, Dept Obstet & Gynecol, Detroit, MI USA
[5] Univ Utah, Dept Obstet & Gynecol, Salt Lake City, UT USA
关键词:
exome;
prenatal diagnosis;
fetal anomalies;
CLINICAL EXOME;
CHROMOSOMAL MICROARRAY;
STANDARDS;
RECOMMENDATIONS;
IDENTIFICATION;
GUIDELINES;
STATEMENT;
D O I:
10.1038/s41436-019-0731-7
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
[No abstract available]
引用
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页码:675 / 680
页数:6
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