Genomic characteristics of miscarriage copy number variants
نویسندگان
چکیده
منابع مشابه
Genomic characteristics of miscarriage copy number variants.
Studies of copy number variants (CNVs) in miscarriages are rare in comparison to post-natal cases with developmental abnormalities. The overall characteristics of miscarriage CNVs (size, gene content and function) are therefore largely unexplored. Our goal was to assess and compare the characteristics of CNVs identified in 101 euploid miscarriages from four high-resolution array studies that do...
متن کاملBIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملCopy number variants and pharmacogenomics.
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...
متن کاملmitochondrial copy number and d-loop variants in pompe patients
objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...
متن کاملOn the frequency of copy number variants
MOTIVATION Estimating the frequency distribution of copy number variants (CNVs) is an important aspect of the effort to characterize this new type of genetic variation. Currently, most studies report a strong skew toward low-frequency CNVs. In this article, our goal is to investigate the frequencies of CNVs. We employ a two-step procedure for the CNV frequency estimation process. We use family ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2015
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gav030