Results 111 to 120 of about 193,929 (313)
Efficient multivariate sequence classification [PDF]
arXiv, 2014 Kernel-based approaches for sequence classification have been successfully applied to a variety of domains, including the text categorization, image classification, speech analysis, biological sequence analysis, time series and music classification, where they show some of the most accurate results.
arxiv
Clinical Validation of a Whole Exome Sequencing Pipeline
, 2021 Establishing whole exome sequencing (WES) in an accredited clinical diagnostic space is challenging. The validation (as opposed to verification) of an approach that will lead to clinical reports requires adhering to international guidelines and recommendations and developing a robust analytical pipeline that can scale due to the increasing clinical ...
Indu Raja +4 more
openaire +3 more sources
A characterization of substitutive sequences using return words [PDF]
Discrete Mathematics 179 (1998) 89-101, 2008 We prove that a sequence is primitive substitutive if and only if the set of its derived sequences is finite; we defined these sequences here.
arxiv
Epilepsia Open, EarlyView., 2022 Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various preclinical epilepsy research disciplines. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy ...
Erwin A. van Vliet +11 more
wiley +1 more source
A Note on The Multidimensional Moment Problem [PDF]
arXiv, 2016 In this note, we show that if a multidimensional sequence generates Hankel tensors and all the Hankel matrices, generated by this sequence, are positive semi-definite, then this sequence is a multidimensional moment sequence.
arxiv
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren +10 more
wiley +1 more source
Diagnostics of Primary Immunodeficiencies through Next Generation Sequencing
Frontiers in Immunology, 2016 Background: Recently, a growing number of novel genetic defects underlying primary immunodeficiencies (PID) have been identified, increasing the number of PID up to more than 250 well-defined forms.
Vera Gallo +14 more
doaj +1 more source
Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency [PDF]
, 2010 Alexandre Bolze +16 more
openalex +1 more source
The genetic component of preeclampsia: A whole-exome sequencing study
PLOS ONE, 2018 Preeclampsia is a major cause of maternal and perinatal deaths. The aetiology of preeclampsia is largely unknown but a polygenetic component is assumed. To explore this hypothesis, we performed an in-depth whole-exome sequencing study in women with (cases, N = 50) and without (controls, N = 50) preeclampsia.
Jens Magnus Bernth Jensen +5 more
openaire +7 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source