Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 50, 2016, Pages E8159-E8168

  Chan, K C Allen ^a,b   Jiang, Peiyong ^a,b   Sun, Kun ^a,b   Cheng, Yvonne K Y ^b   Tong, Yu K ^a,b   Cheng, Suk Hang ^a,b   Wong, Ada I C ^a,b   Hudecova, Irena ^a,b   Leung, Tak Y ^b   Chiu, Rossa W K ^a,b   Lo, Yuk Ming Dennis ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

DNA fragmentation patterns; Massively parallel sequencing; Noninvasive prenatal testing

Indexed keywords

GENOMIC DNA; DNA;

BIOINFORMATICS; CLINICAL ARTICLE; CONFERENCE PAPER; DE NOVO MUTATION; DNA SEQUENCE; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FETUS; GENE LOCATION; GENE MUTATION; GENOME ANALYSIS; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MATERNAL PLASMA; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGY; BLOOD; CONGENITAL HEART MALFORMATION; DNA FRAGMENTATION; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE; MATERNAL INHERITANCE; PATERNAL INHERITANCE; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; WHOLE GENOME SEQUENCING;

COMPUTATIONAL BIOLOGY; DNA; DNA FRAGMENTATION; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; FETUS; GENETIC TESTING; GENOME, HUMAN; HEART DEFECTS, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MATERNAL INHERITANCE; PATERNAL INHERITANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; WHOLE GENOME SEQUENCING;

EID: 85003988368     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1615800113     Document Type: Article

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