Participant-Driven Matchmaking in the Genomic Era

Human Mutation

Volumn 36, Issue 10, 2015, Pages 965-973

  Lambertson, Katherine F ^a   Damiani, Stephen A ^b,c   Might, Matthew ^d,e   Shelton, Robert ^f   Terry, Sharon F ^a,g  

^a GENETIC ALLIANCE   (United States)

^b Mission Massimo Foundation Inc   (Australia)

^c Mission Massimo Foundation Inc   (United States)

^d NGLY1org   (United States)

^e UNIVERSITY OF UTAH   (United States)

^f Private Access   (United States)

^g International Division   (United States)

Author keywords

Citizen science; Matchmaker Exchange; Patient led matchmaking; Rare disease diagnostics; Registries; Whole exome sequencing; Whole genome sequencing

Indexed keywords

ARTICLE; DEGLYCOSYLATION DISORDER; GENETIC DATABASE; GENETIC DISORDER; GENETIC SCREENING; GENOME ANALYSIS; GENOMIC MATCHMAKING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEUKOENCEPHALOPATHY; PARTICIPANT LED MATCHMAKING; PRIORITY JOURNAL; RARE DISEASE; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; COMPUTER PROGRAM; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOMICS; INFORMATION DISSEMINATION; PATIENT PARTICIPATION; PHENOTYPE; PROCEDURES;

GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOMICS; HUMANS; INFORMATION DISSEMINATION; PATIENT PARTICIPATION; PHENOTYPE; RARE DISEASES; SOFTWARE;

EID: 84941879078     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22852     Document Type: Article

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