TY  - JOUR
AU  - Roy, Noémi B A
AU  - Wilson, Edward A
AU  - Henderson, Shirley
AU  - Wray, Katherine
AU  - Babbs, Christian
AU  - Okoli, Steven
AU  - Atoyebi, Wale
AU  - Mixon, Avery
AU  - Cahill, Mary R
AU  - Carey, Peter
AU  - Cullis, Jonathan
AU  - Curtin, Julie
AU  - Dreau, Helene
AU  - Ferguson, David J P
AU  - Gibson, Brenda
AU  - Hall, Georgina
AU  - Mason, Joanne
AU  - Morgan, Mary
AU  - Proven, Melanie
AU  - Qureshi, Amrana
AU  - Sanchez Garcia, Joaquin
AU  - Sirachainan, Nongnuch
AU  - Teo, Juliana
AU  - Tedgård, Ulf
AU  - Higgs, Doug
AU  - Roberts, David
AU  - Roberts, Irene
AU  - Schuh, Anna
PY  - 2016
DO  - 10.1111/bjh.14221
UR  - http://hdl.handle.net/10668/10282
T2  - British journal of haematology
AB  - Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex and expensive laboratory tests. Targeted next-generation-sequencing (NGS) has been used to investigate these disorders, but the selection of genes on...
LA  - en
KW  - congenital dyserythropoietic anaemia
KW  - inherited anaemia
KW  - molecular genetics
KW  - next-generation sequencing
KW  - pyruvate kinase deficiency
KW  - Anemia
KW  - Computational Biology
KW  - Disease Management
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Rare Diseases
KW  - Reproducibility of Results
KW  - Workflow
TI  - A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
TY  - research article
VL  - 175
ER  -