Results 261 to 270 of about 54,945 (293)
Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution. [PDF]
Brief BioinformShi Y +5 more
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Mechanism of a genetic glissando*: structural biology of indel mutations
Trends in Biochemical Sciences, 2006Insertions and deletions of bases in DNA (collectively termed "indels") are both common and biologically relevant, being associated with different human pathologies including cancer and diseases associated with expansions of repeats. Four decades of research have resulted in several hypotheses regarding how indels are generated during DNA synthesis and
Miguel, Garcia-Diaz, Thomas A, Kunkel
openaire +2 more sources
Active Sites in Complement Component C3 Mapped by Mutations at Indels
The Journal of Immunology, 1998Abstract Engineered mutants of human complement component C3 were used to test the idea that sites of length polymorphisms in protein families (indels) can guide a search for protein:protein interaction sites. Sequence changes were introduced at each of the 27 indels in the C3/4/5 protein family, and mutants at 26 indels were expressed ...
R T, Ogata, R, Ai, P J, Low
openaire +2 more sources
Prevalence of calreticulin exon 9 indel mutations in vascular risk patients
Thrombosis Research, 2016Acquired JAK2 as well as calreticulin (CALR) mutations are involved in the development of Philadelphia-negative myeloproliferative neoplasms (MPN). We previously showed that the JAK2 V617F mutation could also been found in coronary patients and in patients with peripheral arterial disease (PAD).
Thomas, Jaeger +7 more
openaire +2 more sources
Four large indels detected by cpTILLING in barley chloroplast mutator seedlings
2021AbstractIn a previous work, a polymorphism detection strategy based on mismatch digestion was applied to the chloroplast genome of barley seedlings that carried the chloroplast mutator (cpm) genotype through many generations. Sixty-two different one- or two-nucleotide-polymorphisms were detected along with four large indels: an insertion of 15 bp in ...
F. Lencina +4 more
openaire +1 more source
Detection of Indel Mutations in Drosophila by High-Resolution Melt Analysis (HRMA)
Cold Spring Harbor Protocols, 2016Although CRISPR technology allows specific genome alterations to be created with relative ease, detection of these events can be problematic. For example, CRISPR-induced double-strand breaks are often repaired imprecisely to generate unpredictable short indel mutations.
Benjamin E, Housden, Norbert, Perrimon
openaire +2 more sources
Spectrum of Rare and Novel Indel Mutations Responsible for β Thalassemia in Eastern India
Indian Journal of Clinical Biochemistry, 2023There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of ...
Sajan Sinha +4 more
openaire +2 more sources