Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23971
Abstract: The mechanisms underlying de novo insertion/deletion (indel) genesis, such as polymerase slippage, have been hypothesized but not well characterized in the human genome. We implemented two methodological improvements, which were leveraged to dissect indel mutagenesis.… read more here.
Keywords: parent origin; insertion deletion; biology; origin phasing ... See more keywords
The use of ACE INDEL polymorphism as a biomarker of coronary artery disease (CAD) in humans with Mediterranean-style diet.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of biological macromolecules"
DOI: 10.1016/j.ijbiomac.2018.11.021
Abstract: The ACE INDEL gene polymorphisms are strongly associated with CAD. Therefore, the present study was undertaken to investigate the relationship between ACE INDEL polymorphism and CAD in Turkish Cypriots whose are expected to have Mediterranean-style… read more here.
Keywords: ace indel; indel polymorphism; indel; cad ... See more keywords
Insights into genetic variants within sheep IGF2BP1 and their association with litter size
Sign Up to like & getrecommendations! Published in 2021 at "Small Ruminant Research"
DOI: 10.1016/j.smallrumres.2021.106350
Abstract: Abstract Insulin-like growth factor 2 mRNA-binding protein 1 (IGF2BP1) plays a crucial role in cellular growth, proliferation, and embryonic development by regulating mRNA stability. IGF2BP1 has been recently found to be located on a new… read more here.
Keywords: association; litter size; indel; igf2bp1 ... See more keywords
UPS-indel: a Universal Positioning System for Indels
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-14400-1
Abstract: Storing biologically equivalent indels as distinct entries in databases causes data redundancy, and misleads downstream analysis. It is thus desirable to have a unified system for identifying and representing equivalent indels. Moreover, a unified system… read more here.
Keywords: universal positioning; positioning system; ups indel; equivalent indels ... See more keywords
indelPost: harmonizing ambiguities in simple and complex indel alignments.
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btab601
Abstract: SUMMARY Small insertions and deletions (indels) in nucleotide sequence may be represented differently between mapping algorithms and variant callers, or in the flanking sequence context. Representational ambiguity is especially profound for complex indels, complicating comparisons… read more here.
Keywords: complex indel; indelpost; simple complex; complex indels ... See more keywords
Engineering indel and substitution variants of diverse and ancient enzymes using Graphical Representation of Ancestral Sequence Predictions (GRASP)
Sign Up to like & getrecommendations! Published in 2022 at "PLOS Computational Biology"
DOI: 10.1101/2019.12.30.891457
Abstract: Ancestral sequence reconstruction is a technique that is gaining widespread use in molecular evolution studies and protein engineering. Accurate reconstruction requires the ability to handle appropriately large numbers of sequences, as well as insertion and… read more here.
Keywords: representation ancestral; indel; ancestral sequence; sequence ... See more keywords
Abstract LB077: Analysis of indel and structural variant error profiles in deep next generation sequencing data
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-lb077
Abstract: Background: Accurate detection of low frequency mutations is of critical importance in the study of genetic heterogeneity, such as on the detection of minimal residual diseases for leukemias. Our prior work has resulted in successful… read more here.
Keywords: indel; sequencing data; error; next generation ... See more keywords
Chronological set of E. coli O157:H7 bovine strains establishes a role for repeat sequences and mobile genetic elements in genome diversification
Sign Up to like & getrecommendations! Published in 2020 at "BMC Genomics"
DOI: 10.1186/s12864-020-06943-x
Abstract: Enterohemorrhagic Escherichia coli O157:H7 (EHEC) is a significant foodborne pathogen that resides asymptomatically within cattle and other ruminants. The EHEC genome harbors an extensive collection of mobile genetic elements (MGE), including multiple prophage, prophage-like elements,… read more here.
Keywords: repeat sequences; farm; repeat; prophage ... See more keywords
A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0189316
Abstract: Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH. In this study, we recruited a four-generation Chinese… read more here.
Keywords: hypercholesterolemia; chinese family; familial hypercholesterolemia; indel ... See more keywords
Assessing Autosomal InDel Loci With Multiple Insertions or Deletions of Random DNA Sequences in Human Genome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.809815
Abstract: Multiple mutational events of insertion/deletion occurring at or around InDel sites could form multi-allelic InDels and multi-InDels (abbreviated as MM-InDels), while InDels with random DNA sequences could imply a unique mutation event at these loci.… read more here.
Keywords: indel loci; loci; indel; dna sequences ... See more keywords
Identification of Novel Somatic TP53 Mutations in Patients with High-Grade Serous Ovarian Cancer (HGSOC) Using Next-Generation Sequencing (NGS)
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms19051510
Abstract: Somatic mutations in TP53 are a hallmark of high-grade serous ovarian cancer (HGSOC), although their prognostic and predictive value as markers is not well defined. Next-generation sequencing (NGS) can identify novel mutations with high sensitivity,… read more here.
Keywords: grade serous; indel; high grade; ovarian cancer ... See more keywords