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Journal Article
Current Biology, ISSN 0960-9822, 10/2018, Volume 28, Issue 19, pp. 3193 - 3197.e5
Mutation rates vary between species across several orders of magnitude, with larger organisms having the highest per-generation mutation rates. Hypotheses for... 
pedigree | owl monkey | mutation rate | reproductive longevity | de novo mutations | ORIGINS | GERMLINE MUTATION | EVOLUTION | DE-NOVO MUTATIONS | DETERMINANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GROWTH | FRAMEWORK | PATTERNS | MOLECULAR CLOCK | AGE | CELL BIOLOGY | Medical colleges | Monkeys | Genetic aspects | Analysis | Genomics | Resveratrol
Journal Article
Journal Article
Immunogenetics, ISSN 0093-7711, 07/2019, pp. 1 - 14
Indian rhesus macaque major histocompatibility complex (MHC) variation can influence the outcomes of transplantation and infectious disease studies.... 
Infectious diseases | Profiling | Major histocompatibility complex | Genotyping | DNA probes | Transplantation | Genomes | Variation | Histocompatibility | Genotypes
Journal Article
BMC Biology, ISSN 1741-7007, 11/2017, Volume 15, Issue 1, pp. 110 - 110
Background: The de novo assembly of repeat-rich mammalian genomes using only high-throughput short read sequencing data typically results in highly fragmented... 
Strepsirrhine primate | Optical maps | Super-scaffolding | Hi-C | De novo assembly | Centromeres | Physical maps | PRIMATE MODEL | QUALITY | SEQUENCE DATA | de novo assembly | ORGANIZATION | EVOLUTION | DNA | DISEASE | BIOLOGY | Genotype | Properties | Genetic screening | Methods | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2135 - 2144
To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted... 
Atlas-CNV | CNV | targeted gene panel clinical sequencing | single-exon deletion duplication | copy-number variation | Laboratories | Index Medicus
Journal Article
Cancer Research, ISSN 0008-5472, 07/2018, Volume 78, Issue 13 Supplement, pp. 1243 - 1243
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2018, Volume 142, Issue 2, p. 605
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/j.jaci.2017.11.042... 
Virus diseases | Killer cells | Analysis | Immunodeficiency | Genetic research | Genetic aspects
Journal Article
The Journal of allergy and clinical immunology, ISSN 0091-6749, 8/2018, Volume 142, Issue 2, pp. 605 - 617.e7
Gain-of-function mutations in PI3K110δ lead to impaired NK cell cytolytic function that can be partially restored with rapamycin treatment. 
APDS | PI3K signaling | NK cell deficiency | cytotoxicity | combined immunodeficiency
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 05/2019, Volume 21, Issue 3, pp. 449 - 461
Accurate diagnosis and stratification of children with irritable bowel syndrome (IBS) remain challenging. Given the central role of recurrent abdominal pain in... 
BIOMARKERS | CRITERIA | BILE-ACID | ABDOMINAL-PAIN | SIGNATURES | ALIGNMENT | CLASSIFICATION | SYMPTOMS | PATHOLOGY
Journal Article
Neuro-Oncology, ISSN 1522-8517, 11/2018, Volume 20, Issue 12, pp. 1625 - 1633
Abstract Background The genomic characterization of sporadically arising gliomas has delineated molecularly and clinically distinct subclasses of disease.... 
familial | genomics | glioma | germline | tumor profiling | NERVOUS-SYSTEM | TERT PROMOTER MUTATIONS | CANCER | TUMORS | CLINICAL NEUROLOGY | P53 | ONCOLOGY | POT1 | BRAIN | EPIDEMIOLOGY | AGGREGATION | GENOME-WIDE ASSOCIATION
Journal Article