scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta +3 more
wiley +1 more source
DRBD3 regulates long non-coding RNA abundance and cryptic splice site selection in trypanosomes. [PDF]
Ceballos-Pérez G +4 more
europepmc +1 more source
The rain feels different under the same umbrella: Experiences with poverty across LGBTQ subgroups
Abstract Population‐based survey data have demonstrated that LGBTQ communities report varying rates of economic insecurity, yet very little research directly assesses how pathways into and experiences with poverty look different among subgroups at the intersections of sexual orientation and gender identity (SOGI).
Bianca D. M. Wilson, Lillian Nguyen
wiley +1 more source
A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions. [PDF]
Urakawa T +8 more
europepmc +1 more source
Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma. [PDF]
Ahmed S +10 more
europepmc +1 more source
A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights. [PDF]
Nejati P +3 more
europepmc +1 more source
Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene. [PDF]
Peng H +7 more
europepmc +1 more source
De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome. [PDF]
Suzuki E +7 more
europepmc +1 more source
c.98 + 3A>G and c.155 + 1G>T splice-site variants in the <i>ABO*B.01</i> allele lead to weak antigen expression in the Chinese individuals. [PDF]
Zhang J, Ying Y, Hong X, Zhu F.
europepmc +1 more source
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A role for exon sequences and splice-site proximity in splice-site selection
Cell, 1986Analysis of the in vitro splicing products of RNA precursors containing tandem duplications of the 5' or 3' splice sites of human beta-globin IVS 1 revealed that exon sequences play an important role in the relative use of the duplicated sites. These studies also show that the proximity of the 5' and 3' splice sites is an important determinant in the ...
Tom Maniatis, Robin Reed
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