Definition Chapters and Articles Related Terms Recommended Publications Featured Authors Chapters and Articles You might find these chapters and articles relevant to this topic. Chapter Biology/DNA The Genetics
Also in subject area: Biochemistry, Genetics and Molecular BiologyDiscover other topics On this page Definition Chapters and Articles Related Terms Chapters and Articles You might find these chapters and articles relevant to this topic. Chapter Advances in Research and Applications B SHORT-CHAIN DEHYDROG...
of this is simply coverage of the SV, as for most SV callers, the reads that support the reference allele have little to no impact on the SV calling. The abundant homozygous SVs in these cell lines still span many sequence contexts and allow meaningful testing of SV callers. CHM1 and ...
manual adjustment as reported in polyploidy species [52], calculation of new cluster separation score in soybean [48] and other genotype calling software such as ALCHEMY in highly homozygous rice samples [60]). As manual inspection and definition of assay failure varies greatly among studies, ...
Biology and clinical relevance of Hydroxysteroid (17beta) dehydrogenase enzymes 1Introduction 17β-Hydroxysteroid dehydrogenase type 1 and type 2 (17β-HSD1 and 17β-HSD2; EC 1.1.1.62) areoxidoreductasesbelonging to the short chain dehydrogenase-reductase (SDR) family which interconvert ketones and...
Xie et al therefore established iPSCs from fibroblasts of a patient homozygous for β-thalassemia and transfected them with CRISPR/Cas9-based vectors targeted to the disease-causing allele together with a DNA template for HDR. Homologous recombination events were identified by selecting for ...
homozygous for one of these variants or compound heterozygous for one of each often show an increased level of ethylmalonic acid excretion that appears not to be clinically significant. The combination of asymptomatic affected newborns and the frequent variants can cause much confusion in e...
Because the sequence of a SEP is by definition short, this could lead to some peptides not being detected after enzymatic digestion; more SEPs could be detected by use of multiple proteases or multi-dimensional separation schemes.26,27 By checking the information of SEPs in the OpenProt data...
Biology/DNA/Botany Short Tandem Repeat STR, orshort tandem repeat, refers to a DNA method that uses discrete targetedPCRprimers to amplify specific regions of interest in the genome based onsequence homologyto the primers. During the PCR process, fluorescent dyes are incorporated into the DNA fr...
1.A method of treating progressive growth failure in a human subject diagnosed with idiopathic short stature and having a mutation in PAPP-A2, comprising administering plasma containing a PAPP-A2 enzyme intravenously to said human subject;wherein said PAPP-A2 mutation is a homozygous loss-of-functi...