Related references
Note: Only part of the references are listed.Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing
Daniel S. Grosu et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2014)
Development of allele-specificmultiplex PCR to determine the length of poly-T in intron 8 of CFTR
Neng Chen et al.
PEERJ (2014)
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D. Trujillano et al.
JOURNAL OF MEDICAL GENETICS (2013)
Development of a Next-Generation Sequencing Method for BRCA Mutation Screening A Comparison between a High-Throughput and a Benchtop Platform
Maurice Chan et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2012)
Framework for interpretation of genetic variations in pancreatitis patients
David C. Whitcomb
FRONTIERS IN PHYSIOLOGY (2012)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
A standardized framework for the validation and verification of clinical molecular genetic tests
Christopher J. Mattocks et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
Els Dequeker et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
The prevalence of cystic fibrosis in the European Union
Philip M. Farrell
JOURNAL OF CYSTIC FIBROSIS (2008)
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
SV Tavtigian et al.
JOURNAL OF MEDICAL GENETICS (2006)
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
JL Bobadilla et al.
HUMAN MUTATION (2002)
Share Paper
