Results 141 to 150 of about 337,686 (261)
Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]
, 2011 Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz +2 more
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GStream method for SNP genotyping.
, 2013 This figure shows how GStream genotyping method works on two example markers, the first one representing a typical marker capturing a SNP (A and B) and the second one capturing both a SNP and a CNV (C and D).
Arnald Alonso (429872) +4 more
core +1 more source
Animal Research and One Health, EarlyView.In this study, we used cross‐species comparisons to identify ruminant hepatocyte features. We also identified potential genes and TFs involved in coordinating gluconeogenesis in ruminant hepatocytes. By integrating single‐cell data with population genetic analyses, we further identified candidate genetic variation in glucose metabolism and ...
Yaqi Zhou +6 more
wiley +1 more source
Arthritis &Rheumatology, EarlyView.Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez +295 more
wiley +1 more source
Evaluating SNP genotyping performance.
, 2013 Plots comparing SNP genotyping algorithms for each microarray platform are tested. The vertical axis represents the percentage of SNPs that are excluded from the accuracy calculation by the lowest quality score criteria.
Arnald Alonso (429872) +4 more
core +1 more source
Genetic and population analyses implicate thyroid‐related regulation of RNF144B in chondrocalcinosis
Arthritis &Rheumatology, Accepted Article.Objectives Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5–15% of the general population and has recently been identified as an osteoarthritis risk factor. However, Its biological pathways remain unclear.
Yahong Wu +15 more
wiley +1 more source
Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders
Autism Research, EarlyView.ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani +7 more
wiley +1 more source
Journal of Integrative AgricultureHigh-throughput single nucleotide polymorphism (SNP) arrays have emerged as essential genotyping tools, significantly accelerating breeding programs and advancing basic research. In this study, a high-throughput 10K SNP genotyping array for wax gourd was
Dan Liu +6 more
doaj +1 more source
High-throughput SNP genotyping
, 2020 Whole genome approaches using single nucleotide polymorphism (SNP) markers have the potential to transform complex disease genetics and expedite pharmacogenetics research.
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British Journal of Clinical Pharmacology, EarlyView.While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis +5 more
wiley +1 more source