Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
نویسندگان
چکیده
منابع مشابه
Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing
BACKGROUND Identification of gene variants plays an important role in research on and diagnosis of genetic diseases. A combination of enrichment of targeted genes and next-generation sequencing (targeted DNA-HiSeq) results in both high efficiency and low cost for targeted sequencing of genes of interest. METHODOLOGY/PRINCIPAL FINDINGS To identify mutations associated with genetic diseases, we...
متن کاملSocioeconomic Factors Associated With Mortality Rate Caused by Severe Stroke
Background: Stroke is one of the most important causes of disability-adjusted life years lost. Low socioeconomic status is associated with increased stroke-related morbidity and mortality. Objective: This study aimed to investigate in-hospital mortality rate caused by severe cases of ischemic and hemorrhagic stroke and its relationship with patients’ socioeconomic status. Materials and Method...
متن کاملRare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort
Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons. To further delineate the genetic architecture of the disease, we used comprehensive panel sequencing in a cohort of 80 German ALS patients. The panel covered 39 confirmed ALS genes and candidate genes, as well as 238 genes asso...
متن کاملTargeted sequencing reveals genetic variants associated with sensitivity of 79 human cancer xenografts to anticancer drugs
Although there has been progress moving from a 'one-size-fits-all' cytotoxic approach to personalized molecular medicine, the majority of patients with cancer receive chemotherapy using cytotoxic anticancer drugs. The sequencing analysis of 409 genes associated with cancer was conducted in the present study using 59 DNA sequences extracted from human cancer xenografts implanted into nude mice, ...
متن کاملTargeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Sporadic inclusion body myositis (sIBM) has clinical, pathologic and pathomechanistic overlap with some inherited muscle and neurodegenerative disorders. In this study, DNA from 79 patients with sIBM was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, distal myopathy, amyotrophic lateral...
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: BMC Medical Genomics
سال: 2019
ISSN: 1755-8794
DOI: 10.1186/s12920-019-0475-x