Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Analysis of 'Fuji' apple somatic variants from next-generation sequencing.
The domesticated apple (Malus x domestica Borkh.) is a major fruit crop of temperate regions of the world. 'Fuji' apple (Ralls Genet x Delicious), a famous apple cultivar in Korea, has been very popular since its promotion in Japan in 1958. 'Fuji' and its bud mutant cultivars possess variable levels of genetic diversity. Nonetheless, the phenotypes of each group, which are classified into the b...
متن کاملPeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data
UNLABELLED Next-generation sequencing technologies expedited research to develop efficient computational tools for the identification of structural variants (SVs) and their use to study human diseases. As deeper data is obtained, the existence of higher complexity SVs in some genomes becomes more evident, but the detection and definition of most of these complex rearrangements is still in its i...
متن کاملUsing VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.
The VAAST pipeline is specifically designed to identify disease-associated alleles in next-generation sequencing data. In the protocols presented in this paper, we outline the best practices for variant prioritization using VAAST. Examples and test data are provided for case-control, small pedigree, and large pedigree analyses. These protocols will teach users the fundamentals of VAAST, VAAST 2...
متن کاملEvaluating rare variants in complex disorders using next-generation sequencing.
Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the di...
متن کاملDetection of Genomic Structural Variants from Next-Generation Sequencing Data
Structural variants are genomic rearrangements larger than 50 bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and cancer development and progression. Dissecting structural variants from next-generation sequencing data presents several challenges and a number ...
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: Clinical Chemistry
سال: 2019
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2019.308213