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Chem"},{"issue":"36","key":"ref55","doi-asserted-by":"crossref","first-page":"31830","DOI":"10.1074\/jbc.M111.229518","article-title":"SLC6A14 (ATB0,+) protein, a highly concentrative and broad specific amino acid transporter, is a novel and effective drug target for treatment of estrogen receptor-positive breast cancer","volume":"286","author":"S Karunakaran","year":"2011","journal-title":"J Biol Chem"},{"issue":"1\u20132","key":"ref56","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.bbadis.2005.04.002","article-title":"Upregulation of the amino acid transporter ATB0,+ (SLC6A14) in colorectal cancer and metastasis in humans","volume":"1741","author":"N Gupta","year":"2005","journal-title":"Biochim Biophys Acta"},{"issue":"23","key":"ref57","doi-asserted-by":"crossref","first-page":"3292","DOI":"10.1111\/bph.13616","article-title":"Amino acid transporter SLC6A14 is a novel and effective drug target for pancreatic cancer","volume":"173","author":"V Coothankandaswamy","year":"2016","journal-title":"Br J Pharmacol"},{"issue":"4","key":"ref58","doi-asserted-by":"crossref","first-page":"e27","DOI":"10.1093\/nar\/gku1280","article-title":"Integrative analysis of public ChIP-seq experiments reveals a complex multi-cell regulatory landscape","volume":"43","author":"A Griffon","year":"2015","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"ref59","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/nrg1315","article-title":"Applied bioinformatics for the identification of regulatory elements","volume":"5","author":"WW Wasserman","year":"2004","journal-title":"Nat Rev Genet"},{"issue":"1\u20134","key":"ref60","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1159\/000149780","article-title":"Characterization of SLC26A9, facilitation of Cl(-) transport by bicarbonate","volume":"22","author":"C Loriol","year":"2008","journal-title":"Cell Physiol Biochem"},{"issue":"Pt 10","key":"ref61","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1113\/jphysiol.2008.164863","article-title":"Diverse transport modes by the solute carrier 26 family of anion transporters","volume":"587","author":"E Ohana","year":"2009","journal-title":"J Physiol"},{"key":"ref62","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","author":"J Lonsdale","year":"2013","journal-title":"Nat Genet"},{"issue":"5","key":"ref63","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00109-012-0973-1","article-title":"The chloride channel\/transporter Slc26a9 regulates the systemic arterial pressure and renal chloride excretion","volume":"91","author":"H Amlal","year":"2013","journal-title":"J Mol Med (Berl)"},{"issue":"5","key":"ref64","doi-asserted-by":"crossref","first-page":"e0126432","DOI":"10.1371\/journal.pone.0126432","article-title":"Proton Pump Inhibitors Inhibit Pancreatic Secretion: Role of Gastric and Non-Gastric H+\/K+-ATPases","volume":"10","author":"J Wang","year":"2015","journal-title":"PLoS One"},{"issue":"1","key":"ref65","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1074\/jbc.M110.136382","article-title":"Pancreatic bicarbonate secretion involves two proton pumps","volume":"286","author":"I Novak","year":"2011","journal-title":"J Biol Chem"},{"issue":"1","key":"ref66","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s00018-016-2391-y","article-title":"Role of CFTR in epithelial physiology","volume":"74","author":"V Saint-Criq","year":"2017","journal-title":"Cell Mol Life Sci"},{"issue":"3","key":"ref67","doi-asserted-by":"crossref","first-page":"G528","DOI":"10.1152\/ajpgi.00052.2011","article-title":"Cystic fibrosis growth retardation is not correlated with loss of Cftr in the intestinal epithelium","volume":"301","author":"CA Hodges","year":"2011","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"issue":"5191","key":"ref68","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1126\/science.7527588","article-title":"Correction of lethal intestinal defect in a mouse model of cystic fibrosis by human CFTR","volume":"266","author":"L Zhou","year":"1994","journal-title":"Science"},{"issue":"18","key":"ref69","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1056\/NEJMoa1105185","article-title":"A CFTR potentiator in patients with cystic fibrosis and the G551D mutation","volume":"365","author":"BW Ramsey","year":"2011","journal-title":"N Engl J Med"},{"issue":"3","key":"ref70","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1056\/NEJMoa1409547","article-title":"Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR","volume":"373","author":"CE Wainwright","year":"2015","journal-title":"N Engl J Med"},{"issue":"5","key":"ref71","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1164\/rccm.201405-0882LE","article-title":"Resolution of cystic fibrosis-related diabetes with ivacaftor therapy","volume":"190","author":"D Hayes Jr.","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"issue":"3","key":"ref72","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nprot.2015.021","article-title":"Efficient generation of functional CFTR-expressing airway epithelial cells from human pluripotent stem cells","volume":"10","author":"AP Wong","year":"2015","journal-title":"Nat Protoc"},{"issue":"344","key":"ref73","doi-asserted-by":"crossref","first-page":"344ra84","DOI":"10.1126\/scitranslmed.aad8278","article-title":"Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis","volume":"8","author":"JF Dekkers","year":"2016","journal-title":"Sci Transl Med"},{"issue":"5","key":"ref74","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1165\/rcmb.2016-0276MA","article-title":"Pharmacological Rescue of Conditionally Reprogrammed Cystic Fibrosis Bronchial Epithelial Cells","volume":"56","author":"M Gentzsch","year":"2017","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"9","key":"ref75","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1038\/nprot.2010.116","article-title":"Data quality control in genetic case-control association studies","volume":"5","author":"CA Anderson","year":"2010","journal-title":"Nat Protoc"},{"issue":"3","key":"ref76","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a toolset for whole-genome association and population-based linkage analysis","volume":"81","author":"NB Purcell S","year":"2007","journal-title":"American Journal of Human Genetics"},{"issue":"22","key":"ref77","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1093\/bioinformatics\/btq559","article-title":"Robust relationship inference in genome-wide association studies","volume":"26","author":"A Manichaikul","year":"2010","journal-title":"Bioinformatics"},{"issue":"3","key":"ref78","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.ajhg.2015.12.022","article-title":"Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia","volume":"98","author":"KJ Galinsky","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"5","key":"ref79","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.ajhg.2016.09.014","article-title":"Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure","volume":"99","author":"KJ Galinsky","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"12","key":"ref80","doi-asserted-by":"crossref","first-page":"e190","DOI":"10.1371\/journal.pgen.0020190","article-title":"Population structure and eigenanalysis","volume":"2","author":"N Patterson","year":"2006","journal-title":"PLoS Genet"},{"issue":"8","key":"ref81","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/ng1847","article-title":"Principal components analysis corrects for stratification in genome-wide association studies","volume":"38","author":"AL Price","year":"2006","journal-title":"Nature genetics"},{"issue":"7571","key":"ref82","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"A Auton","year":"2015","journal-title":"Nature"},{"issue":"10","key":"ref83","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.tig.2015.07.006","article-title":"Strategies for Imputing and Analyzing Rare Variants in Association Studies","volume":"31","author":"TJ Hoffmann","year":"2015","journal-title":"Trends Genet"},{"issue":"6","key":"ref84","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.ajhg.2017.04.014","article-title":"Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits","volume":"100","author":"I Tachmazidou","year":"2017","journal-title":"Am J Hum Genet"},{"issue":"5","key":"ref85","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1086\/521987","article-title":"Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering","volume":"81","author":"SR Browning","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"10","key":"ref86","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1038\/ng.3643","article-title":"A reference panel of 64,976 haplotypes for genotype imputation","volume":"48","author":"S McCarthy","year":"2016","journal-title":"Nature genetics"},{"issue":"1","key":"ref87","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.ajhg.2015.11.020","article-title":"Genotype Imputation with Millions of Reference Samples","volume":"98","author":"BL Browning","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"4","key":"ref88","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1198\/jcgs.2009.07130","article-title":"Fast Implementation for Normal Mixed Effects Models With Censored Response","volume":"18","author":"F Vaida","year":"2009","journal-title":"J Comput Graph Stat"},{"issue":"7","key":"ref89","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.annepidem.2006.12.005","article-title":"Re: Estimation of bias in nongenetic observational studies using "Mendelian triangulation" by Bautista","volume":"17","author":"DC Thomas","year":"2007","journal-title":"Annals of epidemiology"},{"issue":"R2","key":"ref90","doi-asserted-by":"crossref","first-page":"R195","DOI":"10.1093\/hmg\/ddy163","article-title":"Evaluating the potential role of pleiotropy in Mendelian randomization studies","volume":"27","author":"G Hemani","year":"2018","journal-title":"Hum Mol Genet"},{"issue":"2","key":"ref91","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/bioinformatics\/19.2.185","article-title":"A comparison of normalization methods for high density oligonucleotide array data based on variance and bias","volume":"19","author":"BM Bolstad","year":"2003","journal-title":"Bioinformatics"},{"issue":"5","key":"ref92","doi-asserted-by":"crossref","first-page":"e1000770","DOI":"10.1371\/journal.pcbi.1000770","article-title":"A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies","volume":"6","author":"O Stegle","year":"2010","journal-title":"PLoS Comput Biol"},{"issue":"4","key":"ref93","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/gepi.21896","article-title":"Robust inference of population structure for ancestry prediction and correction of stratification in the presence of relatedness","volume":"39","author":"MP Conomos","year":"2015","journal-title":"Genet Epidemiol"},{"issue":"10","key":"ref94","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1093\/bioinformatics\/btv722","article-title":"Fast and efficient QTL mapper for thousands of molecular phenotypes","volume":"32","author":"H Ongen","year":"2016","journal-title":"Bioinformatics"},{"key":"ref95","article-title":"The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF","author":"PDW Eckford","year":"2018","journal-title":"J Cyst Fibros"},{"issue":"1","key":"ref96","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1164\/rccm.201701-0134OC","article-title":"Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity","volume":"197","author":"D Polineni","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"ref97","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"A Dobin","year":"2013","journal-title":"Bioinformatics"},{"issue":"11","key":"ref98","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1093\/bioinformatics\/bts196","article-title":"RNA-SeQC: RNA-seq metrics for quality control and process optimization","volume":"28","author":"DS DeLuca","year":"2012","journal-title":"Bioinformatics"},{"issue":"3","key":"ref99","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1038\/nprot.2011.457","article-title":"Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression 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