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11/2018, ISBN 9783319948263, 202
This volume provides a concise yet comprehensive overview of minimal residual disease (MRD) testing. The text reviews the history of MRD testing, MRD testing... 
Pathology | Oncology | Medicine & Public Health | Hematology
eBook
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. SCI-31 - SCI-31
Abstract The widespread use of ribonucleic acid (RNA) analysis as a measure of minimal residual disease (MRD) in leukemia has primarily been performed via... 
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, p. 50
  Because the genetic underpinnings of DC remain incompletely characterized, variants in genes associated with telomere maintenance are often assumed to be... 
Genetic counseling | Bone marrow | Genetics | Chromosomes
Journal Article
Neurology, ISSN 0028-3878, 11/2019, p. 10
Journal Article
Blood, ISSN 0006-4971, 11/2019, Volume 134, Issue Supplement_1, pp. 2683 - 2683
Children with Down syndrome (DS) are at a 500-fold increased risk for developing acute myeloid leukemia (AML) before they reach five years of age. DS-AML... 
Journal Article
Haematologica, 04/2019
Nearly all adults harbor acute myeloid leukemia-related clonal hematopoietic mutations at a variant allele fraction of ≥0.0001, yet relatively few develop... 
Journal Article
Haematologica, ISSN 0390-6078, 12/2019, Volume 104, Issue 12, pp. 2410 - 2417
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 7, pp. 427 - 433
Introduction Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important... 
copy-number | 16p11.2 | scoliosis | IDIOPATHIC SCOLIOSIS | VARIANTS | 16p11 | TBX6 | GENE | GENETICS & HEREDITY | FRAMEWORK | COMMON | MUTATIONS | COPY NUMBER VARIATION | DELETIONS | GENOME-WIDE ASSOCIATION | copy number variants
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 2180 - 2180
Abstract Background: Using error-corrected sequencing with a detection limit of 0.0001, Young et al. (2016) found that 95% of healthy individuals harbor... 
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 3839 - 3839
Abstract Introduction: Children with Down syndrome (DS) have a 150-fold higher risk of developing myeloid leukemia (ML-DS) (Wechsler J, Nat Gen 2002). Ten... 
Journal Article
PloS one, 2018, Volume 13, Issue 9, p. e0203147
The role of DNA methylation patterns in complex phenotypes remains unclear. To explore this question, we adapted our methods for rare variant analysis to... 
Journal Article
Immunobiology, ISSN 0171-2985, 11/2019, Volume 224, Issue 6, pp. 728 - 733
Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed... 
APS-1 | AIRE gene | Gene mutation | APECED
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2013, Volume 59, Issue 1, pp. 50 - 51
Journal Article
Journal of Visualized Experiments, ISSN 1940-087X, 08/2018, Volume 2018, Issue 138
Conventional next-generation sequencing techniques (NGS) have allowed for immense genomic characterization for over a decade. Specifically, NGS has been used... 
Molecular tagging | Issue 138 | Error-corrected sequencing | Genomics | Rare event detection | Genetics | Bioinformatics | Early detection | error-corrected sequencing | molecular tagging | QUANTIFICATION | MULTIDISCIPLINARY SCIENCES | ACUTE MYELOID-LEUKEMIA | REPERTOIRES | bioinformatics | DISEASE | genomics | early detection | MUTATIONS | TISSUES
Journal Article
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 21, pp. 879 - 879
Abstract Abstract 879 Introduction: We are working to understand how rare genetic variation can influence incidence and outcomes of pediatric high-risk... 
Journal Article
Nature, ISSN 0028-0836, 02/2015, Volume 518, Issue 7540, pp. 552 - 555
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 2907 - 2907
Abstract Acute myeloid leukemia (AML) is an oligoclonal disease marked by specific somatic genomic alterations. While the leukemia-associated mutations and... 
Journal Article
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