Interpretation of genetic variants

Thorax

Volumn 69, Issue 3, 2014, Pages 295-297

  Sosnay, Patrick R ^a,b   Cutting, Garry R ^a,b  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC VARIATION; GENOTYPE; MUTATION ANALYSIS; PHENOTYPE; POPULATION GENETICS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME, HUMAN; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERTENSION, PULMONARY; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84893985105     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thoraxjnl-2013-204903     Document Type: Article

References (6)

1. Lane KB, Machado RD, Pauciulo M.W., et al.; International PPH Consortium. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000; 26:81-4.
2. Seibold MA, Wise AL, Speer M.P., et al A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med 2011; 364:1503-12.
3. Sosnay PR, Siklosi KR, VanGoor F, et al Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013; 45: 1160-7.
4. Richards CS, Bale S, Bellissimo D.B., et al ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008; 10:294-300. (Pubitemid 351544132)
5. Cline MS, Karchin R. Using bioinformatics to predict the functional impact of SNVs. Bioinformatics 2011; 27:441-8.
6. Ooi CY, Durpuis A, Ellis L., et al Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with singleorgan manifestations of cystic fibrosis? Thorax 2014; 69:254-60.