Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Nature Biotechnology

Volumn 34, Issue 5, 2016, Pages 531-538

  Chen, Rong ^a   Shi, Lisong ^a   Hakenberg, Jörg ^a   Naughton, Brian ^b,i   Sklar, Pamela ^a   Zhang, Jianguo ^c   Zhou, Hanlin ^c   Tian, Lifeng ^d   Prakash, Om ^e   Lemire, Mathieu ^f   Sleiman, Patrick ^d   Cheng, Wei Yi ^a   Chen, Wanting ^c   Shah, Hardik ^a   Shen, Yulan ^c   Fromer, Menachem ^a   Omberg, Larsson ^g   Deardorff, Matthew A ^d   Zackai, Elaine ^d   Bobe, Jason R ^a   Levin, Elissa ^a   Hudson, Thomas J ^f   Groop, Leif ^e   Wang, Jun ^h   Hakonarson, Hakon ^d   Wojcicki, Anne ^b   Diaz, George A ^a   Edelmann, Lisa ^a   Schadt, Eric E ^a   Friend, Stephen H ^a,g   more..

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b 23andMe ^*  (United States)

^c BGI SHENZHEN   (China)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e LUND UNIVERSITY DIABETES CENTRE   (Sweden)

^f ONTARIO INSTITUTE FOR CANCER RESEARCH   (Canada)

^g SAGE BIONETWORKS   (United States)

^h ICarbonX ^*  (China)

ⁱ Boolean Biotech Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC ENGINEERING;

CHILDHOOD DISEASE; CLINICAL MANIFESTATION; GENETIC STUDIES; GENETIC VARIANTS; HEALTHY INDIVIDUALS; HUMAN DISEASE; THERAPEUTIC STRATEGY;

GENES;

ALLELISM; ARTICLE; CHILDHOOD DISEASE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIATION; GENOME ANALYSIS; GENOME-WIDE ASSOCIATION STUDY; HUMAN; PRIORITY JOURNAL; CHILD; CHROMOSOMAL MAPPING; DISEASE RESISTANCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN GENOME; INFANT; MALE; MENDELIAN RANDOMIZATION ANALYSIS; NEWBORN; PRESCHOOL CHILD; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS AND NUMERICAL DATA;

CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DISEASE RESISTANCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENDELIAN RANDOMIZATION ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 84969941163     PISSN: 10870156     EISSN: 15461696     Source Type: Journal    
DOI: 10.1038/nbt.3514     Document Type: Article

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