BMC Genomics, 2018 Background Understanding the underlying genetic structure of human populations is of fundamental interest to both biological and social sciences. Advances in high-throughput genotyping technology have markedly improved our understanding of global ...
Zoltán Maróti +4 more
doaj +1 more source
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
Improving somatic variant identification through integration of genome and exome data
BMC Genomics, 2017 Background Cost-effective high-throughput sequencing technologies, together with efficient mapping and variant calling tools, have made it possible to identify somatic variants for cancer study.
Vinaya Vijayan +2 more
doaj +1 more source
Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis [PDF]
Genomics & Informatics, 2013 In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes having candidate somatic mutations in ...
Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim
doaj +1 more source
TelomereHunter – in silico estimation of telomere content and composition from cancer genomes
BMC Bioinformatics, 2019 Background Establishment of telomere maintenance mechanisms is a universal step in tumor development to achieve replicative immortality. These processes leave molecular footprints in cancer genomes in the form of altered telomere content and aberrations ...
Lars Feuerbach +16 more
doaj +1 more source
Estimating sequencing error rates using families
BioData Mining, 2021 Background As next-generation sequencing technologies make their way into the clinic, knowledge of their error rates is essential if they are to be used to guide patient care.
Kelley Paskov +7 more
doaj +1 more source
A computational method for estimating the PCR duplication rate in DNA and RNA-seq experiments. [PDF]
, 2017 BackgroundPCR amplification is an important step in the preparation of DNA sequencing libraries prior to high-throughput sequencing. PCR amplification introduces redundant reads in the sequence data and estimating the PCR duplication rate is important to
Bansal, Vikas
core +2 more sources
Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations. [PDF]
, 2015 BackgroundEstimation of individual ancestry from genetic data is useful for the analysis of disease association studies, understanding human population history and interpreting personal genomic variation. New, computationally efficient methods are needed
Bansal, Vikas, Libiger, Ondrej
core +2 more sources
BMC Medical Genomics, 2012 Background Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results.
Facio Flavia M +3 more
doaj +1 more source
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
core +2 more sources