Precise detection of de novo single nucleotide variants in human genomes

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

Volumn 115, Issue 21, 2018, Pages 5516-5521

  Gómez Romero, Laura ^a   Palacios Flores, Kim ^a,b   Reyes, José ^a   García, Delfino ^a   Boege, Margareta ^a,b   Dávila, Guillermo ^a,b   Flores, Margarita ^a,b   Schatz, Michael C ^c,d   Palacios, Rafael ^a,b  

^a INSTITUTO DE CIENCIAS FÍSICAS   (Mexico)

^b CENTRO DE FÍSICA APLICADA Y TECNOLOGÍA AVANZADA   (Mexico)

^c Cold Spring Harbor Laboratory ^*  (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

Coverage map; De novo mutations; Genomic algorithms; Genomic landscape; Human genome variation

Indexed keywords

ARTICLE; BIOINFORMATICS; DIPLOIDY; DOWN REGULATION; GENE MAPPING; GENE SEQUENCE; GENETIC VARIATION; GENOME ANALYSIS; HAPLOIDY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN GENOME; PRIORITY JOURNAL; PROGENY; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; CHILD; CHILD PARENT RELATION; COPY NUMBER VARIATION; DNA SEQUENCE; HIGH THROUGHPUT SEQUENCING; PROCEDURES; SOFTWARE;

ALGORITHMS; CHILD; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PARENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 85047302197     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1802244115     Document Type: Article

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