ExomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Genomics

Volumn 103, Issue 2-3, 2014, Pages 169-176

  Maranhao, B ^a,b   Biswas, P ^a   Duncan, J L ^c   Branham, K E ^d   Silva, G A ^a,b   Naeem, M A ^e   Khan, S N ^e   Riazuddin, S ^e   Hejtmancik, J F ^f   Heckenlively, J R ^d   Riazuddin, S A ^e,g   Lee, P L ^a   Ayyagari, R ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF THE PUNJAB   (Pakistan)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Exome; Filtering; Homozygosity mapping; Mendelian disease; Software

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; COMPUTER MODEL; COMPUTER PROGRAM; CONTROLLED STUDY; DNA SEQUENCE; DOMINANT INHERITANCE; ELECTRORETINOGRAPHY; EXOME; GENE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDEL MUTATION; LRP1 GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PEDIGREE; PERIMETRY; PHENOTYPE; PRIORITY JOURNAL; PUPIL REFLEX; RDH5 GENE; RECESSIVE INHERITANCE; SINGLE NUCLEOTIDE POLYMORPHISM; USH2A GENE; VISUAL ACUITY; ALLELE; CLINICAL TRIAL; FEMALE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETICS; HETEROZYGOTE; HOMOZYGOTE; INFORMATION PROCESSING; MALE; PROCEDURES;

ALLELES; DATASETS AS TOPIC; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDEL MUTATION; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84898047240     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2014.02.006     Document Type: Article

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