New Single-Cell Genome Amplification Method Aims to Reduce Biases to Detect Micro CNVs | GenomeWeb

نویسنده

  • Monica Heger
چکیده

The researchers described the linear amplification via transposon insertion (LIANTI) method today in Science, reporting that it enables micro-copy number variation detection with kilobase resolution. Sunney Xie, senior author on the study, said that he is interested in using the method for preimplantation genetic screening and diagnosis, which typically rely on the analysis of single or very few cells to screen embryos for chromosomal alterations prior to implantation.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Applications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders

Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...

متن کامل

A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing

Copy number variations (CNVs), a common genomic mutation associated with various diseases, are important in research and clinical applications. Whole genome amplification (WGA) and massively parallel sequencing have been applied to single cell CNVs analysis, which provides new insight for the fields of biology and medicine. However, the WGA-induced bias significantly limits sensitivity and spec...

متن کامل

Quantitative assessment of single-cell whole genome amplification methods for detecting copy number variation using hippocampal neurons

Single-cell genomic analysis has grown rapidly in recent years and finds widespread applications in various fields of biology, including cancer biology, development, immunology, pre-implantation genetic diagnosis, and neurobiology. To date, the amplification bias, amplification uniformity and reproducibility of the three major single cell whole genome amplification methods (GenomePlex WGA4, MDA...

متن کامل

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants

Amplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage is frequently distorted by various biases of NGS platforms, which reduce predictive capabilities of existing approaches. Additionally, the use...

متن کامل

O-27: Genome Instabilities in Preimplantation Development Leading to Genetic Variation between Tissues of Normal Human Fetuses

Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017