Bionano Genome Mapping Identifies Large Structural Variants in Cancer and Genetic Disorders

ثبت نشده
چکیده

M 858.888.7600 F 858.888.7601 | [email protected] | bionanogenomics.com © Copyright 2017, Bionano Genomics Inc. For research use only. Not for use in diagnostic procedures. 1 Existing technologies including chromosomal microarrays and whole genome sequencing diagnose less than 50% of patients with genetic disorders. This leaves a majority of patients without ever receiving a molecular diagnosis.1,2 Undiagnosed disorders are individually rare but their combined incidence and the associated diagnostic odyssey, with resultant delays in treatment, are a drain on families and the healthcare system. Many of these diseases remain medical mysteries with no root cause or clear basis for treatment.

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

I-38: Chromosome Instability in The Cleavage Stage Embryo

Recently, we demonstrated chromosome instability (CIN) in human cleavage stage embryogenesis following in vitro fertilization (IVF). CIN not necessarily undermines normal human development (i.e. when remaining normal diploid blastomeres develop the embryo proper), however it can spark a spectrum of conditions, including loss of conception, genetic disease and genetic variation development. To s...

متن کامل

A geometric approach for classification and comparison of structural variants

MOTIVATION Structural variants, including duplications, insertions, deletions and inversions of large blocks of DNA sequence, are an important contributor to human genome variation. Measuring structural variants in a genome sequence is typically more challenging than measuring single nucleotide changes. Current approaches for structural variant identification, including paired-end DNA sequencin...

متن کامل

I-40: Male Genome Programming, Infertility and Cancer

Background: During male germ cells differentiation, genomewide re-organizations and highly specific programming of the male genome occur. These changes not only include the large-scale meiotic shuffling of genes, taking place in spermatocytes, but also a complete “re-packaging” of the male genome in post meiotic cells, leading to a highly compacted nucleo-protamine structure in the mature sperm...

متن کامل

Next generation mapping reveals novel large genomic rearrangements in prostate cancer

Complex genomic rearrangements are common molecular events driving prostate carcinogenesis. Clinical significance, however, has yet to be fully elucidated. Detecting the full range and subtypes of large structural variants (SVs), greater than one kilobase in length, is challenging using clinically feasible next generation sequencing (NGS) technologies. Next generation mapping (NGM) is a new tec...

متن کامل

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

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