Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

6 Peculiarities of mutation spectrum and frequency of CFTR gene in Russian Federation according to the Registry data in 2013

(2016) N. Kapranov et al.   Journal of Cystic Fibrosis

High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia

(2016) N.V. Petrova et al.   Journal of Cystic Fibrosis

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Computational approaches to study the effects of small genomic variations

(2015) Kamil Khafizov et al.   JOURNAL OF MOLECULAR MODELING

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis

(2014) Eriko Nakano et al.   DIGESTIVE DISEASES AND SCIENCES

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

(2014) Pascale Fanen et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

(2013) A. N. Abou Tayoun et al.   CLINICAL CHEMISTRY

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

The CFTR Ion Channel: Gating, Regulation, and Anion Permeation

(2013) T.-C. Hwang et al.   Cold Spring Harbor Perspectives in Medicine

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

(2013) Huiying Zhao et al.   GENOME BIOLOGY

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

(2012) Agnieszka Sobczyńska-Tomaszewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Quality control and preprocessing of metagenomic datasets

(2011) R. Schmieder et al.   BIOINFORMATICS

Resveratrol rescues cAMP-dependent anionic transport in the cystic fibrosis pancreatic cell line CFPAC1

(2011) Nabila Hamdaoui et al.   BRITISH JOURNAL OF PHARMACOLOGY

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

(2011) E. M. Rohlfs et al.   CLINICAL CHEMISTRY

Recommendations for the classification of diseases as CFTR-related disorders

(2011) C. Bombieri et al.   Journal of Cystic Fibrosis

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

(2010) Rossella Giuliani et al.   ASIAN JOURNAL OF ANDROLOGY

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

(2010) Charles M Strom et al.   GENETICS IN MEDICINE

Mutational spectrum of cystic fibrosis in the Lebanese population

(2010) Chantal Farra et al.   Journal of Cystic Fibrosis

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Tablet--next generation sequence assembly visualization

(2009) I. Milne et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

(2009) Magali Taulan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships

(2008) Kristina V. Krasnov et al.   HUMAN MUTATION

The prevalence of cystic fibrosis in the European Union

(2008) Philip M. Farrell   Journal of Cystic Fibrosis

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

(2008) C. Castellani et al.   Journal of Cystic Fibrosis