Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Taylor, JC; Martin, HC; Lise, S; Broxholme, J; Cazier, J-B; Rimmer, A; Kanapin, A; Lunter, G; Fiddy, S; Allan, C; Aricescu, AR; Attar, M; Babbs, C; Becq, J; Beeson, D; Bento, C; Bignell, P; Blair, E; Buckle, VJ; Bull, K

doi:https://www.dx.doi.org/10.1038/ng.3304

File(s)

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.pdf (1.35 MB)

Accepted version

Author(s)

Taylor, JC

Martin, HC

Lise, S

Broxholme, J

Cazier, J-B

more

Type

Journal Article

Date Issued

2015-05-18

Date Acceptance

2015-04-22

Citation

Nature Genetics, 2015, 47 (7), pp.717-726

URI

http://hdl.handle.net/10044/1/32124

DOI

https://www.dx.doi.org/10.1038/ng.3304

ISSN

1546-1718

Publisher

Nature Publishing Group

Start Page

717

End Page

726

Journal / Book Title

Nature Genetics

Volume

47

Issue

7

Copyright Statement

Subjects

Science & Technology

Life Sciences & Biomedicine

Genetics & Heredity

LONG-QT SYNDROME

JUVENILE MYELOMONOCYTIC LEUKEMIA

SEVERE INTELLECTUAL DISABILITY

DISEASE GENE-DISCOVERY

OVARIAN-CANCER

GERMLINE MUTATIONS

BREAST-CANCER

HEREDITARY BREAST

CANDIDATE GENES

EXOME

Base Sequence

DNA Mutational Analysis

Genetic Diseases, Inborn

Genome, Human

High-Throughput Nucleotide Sequencing

Humans

Molecular Diagnostic Techniques

Molecular Sequence Annotation

Polymorphism, Single Nucleotide

Sensitivity and Specificity

Developmental Biology

11 Medical And Health Sciences

06 Biological Sciences

Publication Status

Published