Critical points for an accurate human genome analysis
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23238
Abstract: Next‐generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single‐gene profession is now developing into gene panel sequencing and whole‐exome and whole‐genome sequencing (WES/WGS) analyses. With further advances in sequencing… read more here.
Keywords: accurate human; human genome; genome analysis; points accurate ... See more keywords
Digging into the Unknowns of the Human Genome Sequence: The T2T‐CHM13 Reference Assembly Release
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29235
Abstract: Next-generation sequencing (NGS) has enabled unprecedented gene discovery and dramatically improved molecular diagnostic yields in movement disorders (MDs) and neurodegenerative diseases (NDDs). The human reference genome GRCh38 has hitherto represented the gold standard blueprint for… read more here.
Keywords: human genome; reference; sequence; chm13 ... See more keywords
Middle of the (by)line: Examining hyperauthorship networks in the human genome project
Sign Up to like & getrecommendations! Published in 2018 at "Proceedings of the Association for Information Science and Technology"
DOI: 10.1002/pra2.2018.14505501118
Abstract: The era of big science promises rapid growth of scientific innovations and complex problem‐solving, bringing forth the practice of doing science in large‐scale collaborative effort rather than single author, solitary work. In disciplines such as… read more here.
Keywords: hyperauthorship; middle line; human genome; line examining ... See more keywords
Fearful old world? A commentary on the Second International Summit on human genome editing
Sign Up to like & getrecommendations! Published in 2018 at "Mammalian Genome"
DOI: 10.1007/s00335-018-9791-2
Abstract: Genome editing is revolutionising our ability to modify genomes with exquisite precision for medical and agricultural applications, and in basic research. The first International Summit on Human Genome Editing, organised jointly by the US National… read more here.
Keywords: genome editing; human genome; international summit; genome ... See more keywords
Splice site identification in human genome using random forest
Sign Up to like & getrecommendations! Published in 2017 at "Health and Technology"
DOI: 10.1007/s12553-016-0157-z
Abstract: Gene identification has been an increasingly important task due to developments of Human Genome Project. Splice site prediction lies at the heart of identifying human genes, thus development of new methods which detect the splice… read more here.
Keywords: splice; svm; encoding methods; human genome ... See more keywords
The international Human Genome Project (HGP) and China’s contribution
Sign Up to like & getrecommendations! Published in 2017 at "Protein & Cell"
DOI: 10.1007/s13238-017-0474-7
Abstract: I can’t imagine something like this: One day (the future which is now) a pupil asked such a question in class when I taught about the HGP, “My teacher, why didn’t China do something for… read more here.
Keywords: project hgp; hgp china; human genome; china ... See more keywords
Principles of 3D compartmentalization of the human genome
Sign Up to like & getrecommendations! Published in 2021 at "Cell reports"
DOI: 10.1016/j.celrep.2021.109330
Abstract: SUMMARY Chromatin is organized in the nucleus via CTCF loops and compartmental domains. Here, we compare different cell types to identify distinct paradigms of compartmental domain formation in human tissues. We identify and quantify compartmental… read more here.
Keywords: principles compartmentalization; human genome; genome; cell ... See more keywords
Evaluation of domain of unknown function 1220 (DUF1220) for detection of human genome by quantitative polymerase chain reaction: Potential use in assessing the biodistribution of transplanted therapeutic human cells.
Sign Up to like & getrecommendations! Published in 2020 at "Drug metabolism and pharmacokinetics"
DOI: 10.1016/j.dmpk.2020.11.001
Abstract: The biodistribution profile of cell-based therapy products in animal models is important for evaluation of their safety and efficacy. Because of its quantitative nature and sensitivity, the quantitative polymerase chain reaction (qPCR) is a useful… read more here.
Keywords: biodistribution; duf1220; human genome; quantitative polymerase ... See more keywords
Tandem Repeats and Repeatomes: Delving Deeper into the ‘Dark Matter’ of Genomes
Sign Up to like & getrecommendations! Published in 2018 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2018.04.004
Abstract: The understanding of human biology and diseases, and the practice (below the threshold for HD) there was an association between CAG reof modernmedicine, is being transformed by genomics. The sequencing of the human genome (from… read more here.
Keywords: dark matter; tandem repeat; human genome; tandem repeats ... See more keywords
International policy and ethics in human genome editing: An overview of position statements
Sign Up to like & getrecommendations! Published in 2019 at "Cytotherapy"
DOI: 10.1016/j.jcyt.2019.03.393
Abstract: Background & Aim For more than two decades, scientists have been developing genetic engineering and manipulation technologies for industrial, agricultural and medical purposes. However, until recently, clinician-researchers have had with limited success in translating them… read more here.
Keywords: genome editing; modifying technologies; gene; international policy ... See more keywords
The Human Genome Editing Race: Loosening Regulatory Standards for Commercial Advantage?
Sign Up to like & getrecommendations! Published in 2019 at "Trends in biotechnology"
DOI: 10.1016/j.tibtech.2018.06.005
Abstract: Medicinal products based on genome editing must undergo rigorous preclinical testing and are subject to regulatory oversight for proper risk assessment prior to first evaluation in humans. We give a European perspective on the regulatory… read more here.
Keywords: genome editing; race loosening; human genome; editing race ... See more keywords