Post-zygotic Point Mutations Are an Underrecognized Source of de Novo Genomic Variation

American Journal of Human Genetics

Volumn 97, Issue 1, 2015, Pages 67-74

  Acuna Hidalgo, Rocio ^a   Bo, Tan ^b   Kwint, Michael P ^a   Van De Vorst, Maartje ^a   Pinelli, Michele ^c   Veltman, Joris A ^a,d   Hoischen, Alexander ^a   Vissers, Lisenka E L M ^a   Gilissen, Christian ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMPLICON; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; DNA BARCODING; EVALUATION STUDY; EXON; GAMETOGENESIS; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; GENOMICS; GENOTYPE; GERMLINE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN GENOME; INTRON; MOSAICISM; PARENT; POINT MUTATION; PRIORITY JOURNAL; PROGENY; SOMATIC MUTATION; ZYGOTE; ANIMAL EMBRYO; BIOLOGICAL MODEL; EMBRYOLOGY; GENETICS; GENOME; HIGH THROUGHPUT SEQUENCING; POLYMERASE CHAIN REACTION; PROCEDURES;

EMBRYO, MAMMALIAN; GENETIC VARIATION; GENOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MODELS, GENETIC; MOSAICISM; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 84937525190     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.05.008     Document Type: Article

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