Whole exome sequencing in recurrent early pregnancy loss
نویسندگان
چکیده
منابع مشابه
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
To the Editor : Cranioectodermal dysplasia-1 (CED1), also known as Sensenbrenner syndrome (MIM 218330), is characterized by skeletal, craniofacial, and ectodermal abnormalities (1). Here, we report a family with CED1 and recurrent abortions. I-2 , 39-year-old woman, was referred to our hospital for consultation regarding recurrent abortions. Although she had one healthy boy (II-2), she suffered...
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Urachal adenocarcinoma is a rare bladder malignancy arising from the urachal remnant. Given its rarity and the lack of knowledge about its genetic characteristics, optimal management of this cancer is not well defined. Practice patterns vary and outcomes remain poor. In order to identify the genomic underpinnings of this malignancy, we performed whole exome sequencing using seven tumor/normal p...
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متن کاملComparing whole genome sequencing and exome sequencing
Introduction Next-generation DNA sequencing empowers scientists to identify genetic variations associated with human disease at higher resolution and greater sensitivity than previously possible. Two approaches are commonly employed -exome sequencing and whole genome sequencing. Exome sequencing targets protein-coding regions comprising approximately 1% of the human genome, while whole genome s...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2016
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gaw008