iScience, 2023 Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie +7 more
doaj +1 more source
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
Frontiers in Genetics, 2021 Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng +3 more
doaj +1 more source
Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]
, 2017 BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull +42 more
core +1 more source
Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]
, 2017 Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC +34 more
core +1 more source
Penalized EM algorithm and copula skeptic graphical models for inferring networks for mixed variables [PDF]
, 2014 In this article, we consider the problem of reconstructing networks for continuous, binary, count and discrete ordinal variables by estimating sparse precision matrix in Gaussian copula graphical models.
Abegaz, Fentaw, Wit, Ernst
core +16 more sources
Bringing genetics into primary care: findings from a national evaluation of pilots in England [PDF]
, 2009 Objectives: Developments in genetic knowledge and clinical applications are seen as rendering traditional modes of organizing genetics provision increasingly inappropriate.
Checkland K +8 more
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Clinical genetics: Medical genetics [PDF]
European Journal of Human Genetics, 2006 In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire +1 more source
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
core +8 more sources
Diagnostically relevant facial gestalt information from ordinary photos
eLife, 2014 Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry +6 more
doaj +1 more source
Diagnostics, 2020 In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear.
Deborah A. Sival +7 more
doaj +1 more source