NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

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

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Statistics for K-mer Based Splicing Analysis

It is well acknowledged that alternative splicing module plays a crucial role to identify the variations of the RNA transcriptomes. In high-throughput short-read RNA, splicing analysis is a challenging task due to the uncertainty and time complexity of reads alignments onto genome and transcriptome. In this paper, we introduce k-mer based statistical method for splicing event analysis. The k-me...

متن کامل

Prenatal detection of fetal aneuploidies using transcervical cell samples.

In the course of an investigation aimed at detecting the presence of trophoblastic cells in the endocervical canal of pregnant women between 7 and 17 weeks of gestation, several cases of aneuploidies were observed using a fluorescent in situ hybridisation (FISH) assay. The cases include fetal chromosome 21 and 18 trisomies, triploidy and sex chromosome aneuploidies. The results were confirmed b...

متن کامل

Rapid Detection of Fetal Aneuploidies by Quantitative Fluorescent-Polymerase Chain Reaction for Prenatal Diagnosis in the Turkish Population

Prenatal diagnosis is testing for diseases or conditions in a fetus or embryo before it is born. It employs a variety of techniques to determine the health and condition of an unborn fetus. The main goal of this process is to perform prenatal diagnosis at the earliest possible stage of gestation. In this regard, quantitative fluorescent-polymerase chain reaction (QF-PCR), a novel technique that...

متن کامل

application of upfc based on svpwm for power quality improvement

در سالهای اخیر،اختلالات کیفیت توان مهمترین موضوع می باشد که محققان زیادی را برای پیدا کردن راه حلی برای حل آن علاقه مند ساخته است.امروزه کیفیت توان در سیستم قدرت برای مراکز صنعتی،تجاری وکاربردهای بیمارستانی مسئله مهمی می باشد.مشکل ولتاژمثل شرایط افت ولتاژواضافه جریان ناشی از اتصال کوتاه مدار یا وقوع خطا در سیستم بیشتر مورد توجه می باشد. برای مطالعه افت ولتاژ واضافه جریان،محققان زیادی کار کرده ...

15 صفحه اول

K#Zl? A SOFTWARE PACKAGE FOR TEACHING (AND LEARNING) XRF

Courses covering analytical methods for materials characterization are part of the educational program in many academic faculties, particularly in applied physics and chemistry. Employment of multimedia techniques in the presentation of the subject is increasingly accepted and even demanded by students as the required hardware and software becomes affordable and widely available at reasonable q...

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

ژورنال

عنوان ژورنال: Scientific Reports

سال: 2018

ISSN: 2045-2322

DOI: 10.1038/s41598-018-23589-8