Results 21 to 30 of about 73,831 (171)

Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny

Studia Ecologiae et Bioethicae, 2014
In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes.
Andrzej Kochański
doaj   +1 more source

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis

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, Zsolt Boldogkői, Dóra Tombácz, Michael Snyder, Tibor Kalmár   +4 more
doaj   +1 more source

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, Siu-Ming Yiu, Liqing Zhang   +2 more
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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, Lina Sieverling, Katharina I. Deeg, Philip Ginsbach, Barbara Hutter, Ivo Buchhalter, Paul A. Northcott, Sadaf S. Mughal, Priya Chudasama, Hanno Glimm, Claudia Scholl, Peter Lichter, Stefan Fröhling, Stefan M. Pfister, David T. W. Jones, Karsten Rippe, Benedikt Brors   +16 more
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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, Jae-Yoon Jung, Brianna Chrisman, Nate T. Stockham, Peter Washington, Maya Varma, Min Woo Sun, Dennis P. Wall   +7 more
doaj   +1 more source

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

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, Sapp Julie C, Linn Amy, Biesecker Leslie G   +3 more
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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Molecular Genetics & Genomic Medicine, 2021
Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutated in CS ...
Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury   +9 more
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Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng   +7 more
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Skim exome capture genotyping in wheat

The Plant Genome, 2023
Next‐generation sequencing (NGS) technology advancements continue to reduce the cost of high‐throughput genome‐wide genotyping for breeding and genetics research.
Hongliang Wang, Amy Bernardo, Paul St. Amand, Guihua Bai, Robert L. Bowden, Mary J. Guttieri, Katherine W. Jordan   +6 more
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