Clinical Diagnosis through Whole-Genome Sequencing

Platelet function study was consistent with a platelet secretion disorder, and a bone marrow biopsy was planned. The molecular diagnosis explained his thrombocytopenia without need of a bone marrow biopsy. 3. Author Contributions: All authors confirmed they have contributed to the intellectual conte...

Full description

Saved in:
Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 2020-01, Vol.66 (1), p.261-262
Main Authors: Hurst, Anna C E, Wilk, Melissa A, Holt, James M, Lyon, Elaine, Bick, David
Format: Article
Language:English
Subjects:
Biopsy
Bone marrow
Cell division
Congenital heart disease
Diagnosis
DNA sequencing
Gene sequencing
Genetics
Genomes
Genomics
Medical diagnosis
Muscle proteins
Myosin
Nucleotide sequencing
Platelets
Thrombocytopenia
Whole genome sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Platelet function study was consistent with a platelet secretion disorder, and a bone marrow biopsy was planned. The molecular diagnosis explained his thrombocytopenia without need of a bone marrow biopsy. 3. Author Contributions: All authors confirmed they have contributed to the intellectual content ofthispaper and have met the following 4 requirements: (a) significant contributions to the conception and design, acquisition ofdata, or analysis and interpretation ofdata; (b) drafting or revising thearticleforintellectualcontent;(c)finalapprovalofthepublishedarticle; and (d) agreement to be accountable for all aspects of the article thus ensuring thatquestion related to the accuracy or integrity ofanypart ofthe article are appropriately investigated and resolved.
ISSN:0009-9147
1530-8561
DOI:10.1093/clinchem.2019.310128