Results 71 to 80 of about 2,990,182 (255)
Feature subset selection for splice site prediction
, 2002 Motivation: The large amount of available annotated Arabidopsis thaliana sequences allows the induction of splice site prediction models with supervised learning algorithms (see Haussler (1998) for a review and references).
Bernard De Baets +7 more
core +1 more source
FEBS Open Bio, EarlyView.Using peripheral blood for determining B‐cell or T‐cell clonality is more reliable when we use cell‐free RNA (cfRNA) because cells release blood significantly more RNA than DNA. Next‐generation sequencing (NGS) of cfRNA allows us to evaluate fragment cfRNA and evaluate clonality reliably without the need for prior determination of the specific dominant
Adam Albitar +11 more
wiley +1 more source
Data report: splice adjustment for Site U1553 [PDF]
, 2022 Postcruise examination of the data splice for International Ocean Discovery Program Expedition 378 Site U1553, in light of new X-ray fluorescence data, revealed three cores from Hole U1553E that were misaligned.
Drury, AJ +3 more
core +1 more source
IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo
FEBS Open Bio, EarlyView.To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley +1 more source
BMC Medical Genomics, 2018 Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within
Mitsuko Furuya +5 more
doaj +1 more source
High-accuracy splice sites prediction based on sequence component and position features [PDF]
, 2012 Identification of splice sites plays a key role in annotation of genes and hence, the improvement of computational prediction of splice sites with high accuracy has great significance.
Wang, Haiyan +4 more
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Splice site prediction research based on location information [PDF]
MATEC Web of ConferencesReveal the mysteries of birth, death and so life has become one of the main purpose of bioinformatics, splice site prediction is one of the most important part, however, not been able to get this problem solved.
Wei Bin +3 more
doaj +1 more source
Titin population splice site/region allele frequency spectrum.
, 2016 TTN population non-essential splice-site variants (>2bp) have significantly lower proportion of private variants and higher proportion of low-frequency variants compared to essential splice-site variants (P = 0.01; P = 5.1 × 10−4, respectively).
Tero-Pekka Alastalo (839757) +2 more
core +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source