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Volumn 21, Issue 2, 2015, Pages 98-108

Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications

Author keywords

Cell free DNA; Fetal epigenome; Fetal transcriptome; Massively parallel sequencing; Noninvasive prenatal diagnosis

Indexed keywords

ANEUPLOIDY; BIOMICS; DIAGNOSIS; EPIGENETICS; GENE SEQUENCE; GENETIC ANALYSIS; GENOME; GENOMICS; HUMAN; MATERNAL PLASMA; METHYLOMIC; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TRANSCRIPTOMIC ANALYSIS; PLASMA EPIGENOMICS; REVIEW; SIZE BASED DIAGNOSTICS; TRANSCRIPTOMICS; BLOOD; DNA METHYLATION; FEMALE; FETAL DISEASES; GENETICS; METABOLISM; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84922887929     PISSN: 14714914     EISSN: 1471499X     Source Type: Journal    
DOI: 10.1016/j.molmed.2014.12.006     Document Type: Review
Times cited : (29)

References (65)
  • 1
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo Y.M.D., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350:485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.D.1
  • 2
    • 1642574222 scopus 로고    scopus 로고
    • Size distributions of maternal and fetal DNA in maternal plasma
    • Chan K.C.A., et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin. Chem. 2004, 50:88-92.
    • (2004) Clin. Chem. , vol.50 , pp. 88-92
    • Chan, K.C.A.1
  • 3
    • 2642540027 scopus 로고    scopus 로고
    • Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms
    • Li Y., et al. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin. Chem. 2004, 50:1002-1011.
    • (2004) Clin. Chem. , vol.50 , pp. 1002-1011
    • Li, Y.1
  • 4
    • 0033364339 scopus 로고    scopus 로고
    • Rapid clearance of fetal DNA from maternal plasma
    • Lo Y.M.D., et al. Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet. 1999, 64:218-224.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 218-224
    • Lo, Y.M.D.1
  • 5
    • 33845512998 scopus 로고    scopus 로고
    • Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis
    • Chan K.C.A., et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin. Chem. 2006, 52:2211-2218.
    • (2006) Clin. Chem. , vol.52 , pp. 2211-2218
    • Chan, K.C.A.1
  • 6
    • 40449109999 scopus 로고    scopus 로고
    • Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21
    • Chim S.S.C., et al. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin. Chem. 2008, 54:500-511.
    • (2008) Clin. Chem. , vol.54 , pp. 500-511
    • Chim, S.S.C.1
  • 7
    • 0036231537 scopus 로고    scopus 로고
    • Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study
    • Chiu R.W.K., et al. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin. Chem. 2002, 48:778-780.
    • (2002) Clin. Chem. , vol.48 , pp. 778-780
    • Chiu, R.W.K.1
  • 8
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu R.W.K., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:20458-20463.
    • (2008) Proc. Natl. Acad. Sci. U.S.A. , vol.105 , pp. 20458-20463
    • Chiu, R.W.K.1
  • 9
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks A.B., et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 2012, 32:3-9.
    • (2012) Prenat. Diagn. , vol.32 , pp. 3-9
    • Sparks, A.B.1
  • 10
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
    • Zimmermann B., et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat. Diagn. 2012, 32:1233-1241.
    • (2012) Prenat. Diagn. , vol.32 , pp. 1233-1241
    • Zimmermann, B.1
  • 11
    • 84876269433 scopus 로고    scopus 로고
    • Noninvasive prenatal molecular karyotyping from maternal plasma
    • Yu S.C., et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS ONE 2013, 8:e60968.
    • (2013) PLoS ONE , vol.8 , pp. e60968
    • Yu, S.C.1
  • 12
    • 84866977090 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia
    • Lam K.W., et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin. Chem. 2012, 58:1467-1475.
    • (2012) Clin. Chem. , vol.58 , pp. 1467-1475
    • Lam, K.W.1
  • 13
    • 84902304410 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma
    • New M.I., et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J. Clin. Endocrinol. Metab. 2014, 99:E1022-E1030.
    • (2014) J. Clin. Endocrinol. Metab. , vol.99 , pp. E1022-E1030
    • New, M.I.1
  • 14
    • 84887080693 scopus 로고    scopus 로고
    • Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA
    • Lun F.M.F., et al. Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA. Clin. Chem. 2013, 59:1583-1594.
    • (2013) Clin. Chem. , vol.59 , pp. 1583-1594
    • Lun, F.M.F.1
  • 15
    • 84903731165 scopus 로고    scopus 로고
    • Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts
    • Tsui N.B.Y., et al. Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts. Clin. Chem. 2014, 60:954-962.
    • (2014) Clin. Chem. , vol.60 , pp. 954-962
    • Tsui, N.B.Y.1
  • 16
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A., Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn. Ther. 2010, 27:1-7.
    • (2010) Fetal Diagn. Ther. , vol.27 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 17
    • 73849092216 scopus 로고    scopus 로고
    • Screening for fetal aneuploidy and neural tube defects
    • Driscoll D.A., Gross S.J. Screening for fetal aneuploidy and neural tube defects. Genet. Med. 2009, 11:818-821.
    • (2009) Genet. Med. , vol.11 , pp. 818-821
    • Driscoll, D.A.1    Gross, S.J.2
  • 18
    • 34548727890 scopus 로고    scopus 로고
    • Digital PCR for the molecular detection of fetal chromosomal aneuploidy
    • Lo Y.M.D., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:13116-13121.
    • (2007) Proc. Natl. Acad. Sci. U.S.A. , vol.104 , pp. 13116-13121
    • Lo, Y.M.D.1
  • 19
    • 35348999450 scopus 로고    scopus 로고
    • Detection of aneuploidy with digital polymerase chain reaction
    • Fan H.C., Quake S.R. Detection of aneuploidy with digital polymerase chain reaction. Anal. Chem. 2007, 79:7576-7579.
    • (2007) Anal. Chem. , vol.79 , pp. 7576-7579
    • Fan, H.C.1    Quake, S.R.2
  • 20
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan H.C., et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. U.S.A. 2008, 105:16266-16271.
    • (2008) Proc. Natl. Acad. Sci. U.S.A. , vol.105 , pp. 16266-16271
    • Fan, H.C.1
  • 21
    • 78650965964 scopus 로고    scopus 로고
    • Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles
    • Liao G.J.W., et al. Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles. Clin. Chem. 2011, 57:92-101.
    • (2011) Clin. Chem. , vol.57 , pp. 92-101
    • Liao, G.J.W.1
  • 22
    • 84878164024 scopus 로고    scopus 로고
    • Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
    • Nicolaides K.H., et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat. Diagn. 2013, 33:575-579.
    • (2013) Prenat. Diagn. , vol.33 , pp. 575-579
    • Nicolaides, K.H.1
  • 23
    • 84861553409 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA
    • Liao G.J.W., et al. Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS ONE 2012, 7:e38154.
    • (2012) PLoS ONE , vol.7 , pp. e38154
    • Liao, G.J.W.1
  • 24
    • 84919475041 scopus 로고    scopus 로고
    • Microarray-based cell-free DNA analysis improves noninvasive prenatal testing
    • Juneau K., et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn. Ther. 2014, 36:282-286.
    • (2014) Fetal Diagn. Ther. , vol.36 , pp. 282-286
    • Juneau, K.1
  • 25
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
    • 319.e1-9
    • Sparks A.B., et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012, 206:319.e1-9.
    • (2012) Am. J. Obstet. Gynecol. , vol.206
    • Sparks, A.B.1
  • 26
    • 78751683468 scopus 로고    scopus 로고
    • Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
    • c7401
    • Chiu R.W.K., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401.
    • (2011) BMJ , vol.342
    • Chiu, R.W.K.1
  • 27
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
    • 205.e1-11
    • Ehrich M., et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am. J. Obstet. Gynecol. 2011, 204:205.e1-11.
    • (2011) Am. J. Obstet. Gynecol. , vol.204
    • Ehrich, M.1
  • 28
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi D.W., et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet. Gynecol. 2012, 119:890-901.
    • (2012) Obstet. Gynecol. , vol.119 , pp. 890-901
    • Bianchi, D.W.1
  • 29
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
    • Palomaki G.E., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 2011, 13:913-920.
    • (2011) Genet. Med. , vol.13 , pp. 913-920
    • Palomaki, G.E.1
  • 30
    • 84864408781 scopus 로고    scopus 로고
    • Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • 137.e1-8
    • Norton M.E., et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012, 207:137.e1-8.
    • (2012) Am. J. Obstet. Gynecol. , vol.207
    • Norton, M.E.1
  • 31
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • 322.e1-5
    • Ashoor G., et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012, 206. 322.e1-5.
    • (2012) Am J Obstet Gynecol , vol.206
    • Ashoor, G.1
  • 32
    • 84908870735 scopus 로고    scopus 로고
    • Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis
    • Gil M.M., et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn. Ther. 2014, 35:156-173.
    • (2014) Fetal Diagn. Ther. , vol.35 , pp. 156-173
    • Gil, M.M.1
  • 33
    • 84899094820 scopus 로고    scopus 로고
    • Noninvasive prenatal testing goes global
    • 231fs215
    • Chandrasekharan S., et al. Noninvasive prenatal testing goes global. Sci. Transl. Med. 2014, 6:231fs215.
    • (2014) Sci. Transl. Med. , vol.6
    • Chandrasekharan, S.1
  • 34
    • 80955166920 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
    • Peters D., et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N. Engl. J. Med. 2011, 365:1847-1848.
    • (2011) N. Engl. J. Med. , vol.365 , pp. 1847-1848
    • Peters, D.1
  • 35
    • 84863574483 scopus 로고    scopus 로고
    • Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma
    • Jensen T.J., et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin. Chem. 2012, 58:1148-1151.
    • (2012) Clin. Chem. , vol.58 , pp. 1148-1151
    • Jensen, T.J.1
  • 36
    • 84873711791 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
    • Srinivasan A., et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am. J. Hum. Genet. 2013, 92:167-176.
    • (2013) Am. J. Hum. Genet. , vol.92 , pp. 167-176
    • Srinivasan, A.1
  • 37
    • 84907056737 scopus 로고    scopus 로고
    • Noninvasive cell-free DNA-based prenatal detection of microdeletions using single nucleotide polymorphism-targeted sequencing
    • Rabinowitz M., et al. Noninvasive cell-free DNA-based prenatal detection of microdeletions using single nucleotide polymorphism-targeted sequencing. Obstet. Gynecol. 2014, 123(Suppl. 1):167S.
    • (2014) Obstet. Gynecol. , vol.123 , pp. 167S
    • Rabinowitz, M.1
  • 38
    • 78650207098 scopus 로고    scopus 로고
    • Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
    • Lo Y.M.D., et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2010, 2:61ra91.
    • (2010) Sci. Transl. Med. , vol.2 , pp. 61ra91
    • Lo, Y.M.D.1
  • 39
    • 84863954202 scopus 로고    scopus 로고
    • Non-invasive prenatal measurement of the fetal genome
    • Fan H.C., et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012, 487:320-324.
    • (2012) Nature , vol.487 , pp. 320-324
    • Fan, H.C.1
  • 40
    • 84862118837 scopus 로고    scopus 로고
    • Noninvasive whole-genome sequencing of a human fetus
    • Kitzman J.O., et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 2012, 4:137ra176.
    • (2012) Sci. Transl. Med. , vol.4 , pp. 137-176
    • Kitzman, J.O.1
  • 41
    • 79959725029 scopus 로고    scopus 로고
    • Variation in genome-wide mutation rates within and between human families
    • Conrad D.F., et al. Variation in genome-wide mutation rates within and between human families. Nat. Genet. 2011, 43:712-714.
    • (2011) Nat. Genet. , vol.43 , pp. 712-714
    • Conrad, D.F.1
  • 42
    • 84880863124 scopus 로고    scopus 로고
    • High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing
    • Yu S.C., et al. High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing. Clin. Chem. 2013, 59:1228-1237.
    • (2013) Clin. Chem. , vol.59 , pp. 1228-1237
    • Yu, S.C.1
  • 43
    • 84867013916 scopus 로고    scopus 로고
    • An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
    • New M.I., et al. An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia. Semin. Reprod. Med. 2012, 30:396-399.
    • (2012) Semin. Reprod. Med. , vol.30 , pp. 396-399
    • New, M.I.1
  • 44
    • 84900472048 scopus 로고    scopus 로고
    • Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing
    • Ma D., et al. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing. Gene 2014, 544:252-258.
    • (2014) Gene , vol.544 , pp. 252-258
    • Ma, D.1
  • 45
    • 84902193969 scopus 로고    scopus 로고
    • Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing
    • Yu S.C., et al. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:8583-8588.
    • (2014) Proc. Natl. Acad. Sci. U.S.A. , vol.111 , pp. 8583-8588
    • Yu, S.C.1
  • 46
    • 84880035770 scopus 로고    scopus 로고
    • The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
    • Canick J.A., et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat. Diagn. 2013, 33:667-674.
    • (2013) Prenat. Diagn. , vol.33 , pp. 667-674
    • Canick, J.A.1
  • 47
    • 0347898005 scopus 로고    scopus 로고
    • Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
    • Lo Y.M.D., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 1998, 62:768-775.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 768-775
    • Lo, Y.M.D.1
  • 48
    • 54049132561 scopus 로고    scopus 로고
    • Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
    • Lun F.M.F., et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 2008, 54:1664-1672.
    • (2008) Clin. Chem. , vol.54 , pp. 1664-1672
    • Lun, F.M.F.1
  • 49
    • 84869426753 scopus 로고    scopus 로고
    • FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma
    • Jiang P., et al. FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma. Bioinformatics 2012, 28:2883-2890.
    • (2012) Bioinformatics , vol.28 , pp. 2883-2890
    • Jiang, P.1
  • 50
    • 26844478953 scopus 로고    scopus 로고
    • Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    • Chim S.S.C., et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:14753-14758.
    • (2005) Proc. Natl. Acad. Sci. U.S.A. , vol.102 , pp. 14753-14758
    • Chim, S.S.C.1
  • 51
    • 84857727055 scopus 로고    scopus 로고
    • Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell
    • Tomizawa S., Sasaki H. Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell. J. Hum. Genet. 2012, 57:84-91.
    • (2012) J. Hum. Genet. , vol.57 , pp. 84-91
    • Tomizawa, S.1    Sasaki, H.2
  • 52
    • 79960120705 scopus 로고    scopus 로고
    • Infant growth restriction is associated with distinct patterns of DNA methylation in human placentas
    • Banister C.E., et al. Infant growth restriction is associated with distinct patterns of DNA methylation in human placentas. Epigenetics 2011, 6:920-927.
    • (2011) Epigenetics , vol.6 , pp. 920-927
    • Banister, C.E.1
  • 53
    • 0036140193 scopus 로고    scopus 로고
    • Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma
    • Poon L.L.M., et al. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin. Chem. 2002, 48:35-41.
    • (2002) Clin. Chem. , vol.48 , pp. 35-41
    • Poon, L.L.M.1
  • 54
    • 70450217879 scopus 로고    scopus 로고
    • Human DNA methylomes at base resolution show widespread epigenomic differences
    • Lister R., et al. Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 2009, 462:315-322.
    • (2009) Nature , vol.462 , pp. 315-322
    • Lister, R.1
  • 55
    • 84868198427 scopus 로고    scopus 로고
    • Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia
    • Kulis M., et al. Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nat. Genet. 2012, 44:1236-1242.
    • (2012) Nat. Genet. , vol.44 , pp. 1236-1242
    • Kulis, M.1
  • 56
    • 0036613432 scopus 로고    scopus 로고
    • Role for DNA methylation in the control of cell type specific maspin expression
    • Futscher B.W., et al. Role for DNA methylation in the control of cell type specific maspin expression. Nat. Genet. 2002, 31:175-179.
    • (2002) Nat. Genet. , vol.31 , pp. 175-179
    • Futscher, B.W.1
  • 57
    • 50649108994 scopus 로고    scopus 로고
    • An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)
    • Rakyan V.K., et al. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs). Genome Res. 2008, 18:1518-1529.
    • (2008) Genome Res. , vol.18 , pp. 1518-1529
    • Rakyan, V.K.1
  • 58
    • 79952768967 scopus 로고    scopus 로고
    • Gestation-dependent changes in human placental global DNA methylation levels
    • Chavan-Gautam P., et al. Gestation-dependent changes in human placental global DNA methylation levels. Mol. Reprod. Dev. 2011, 78:150.
    • (2011) Mol. Reprod. Dev. , vol.78 , pp. 150
    • Chavan-Gautam, P.1
  • 59
    • 84903304809 scopus 로고    scopus 로고
    • Methy-Pipe: an integrated bioinformatics pipeline for whole genome bisulfite sequencing data analysis
    • Jiang P., et al. Methy-Pipe: an integrated bioinformatics pipeline for whole genome bisulfite sequencing data analysis. PLoS ONE 2014, 9:e100360.
    • (2014) PLoS ONE , vol.9 , pp. e100360
    • Jiang, P.1
  • 60
    • 0033762298 scopus 로고    scopus 로고
    • Presence of fetal RNA in maternal plasma
    • Poon L.L.M., et al. Presence of fetal RNA in maternal plasma. Clin. Chem. 2000, 46:1832-1834.
    • (2000) Clin. Chem. , vol.46 , pp. 1832-1834
    • Poon, L.L.M.1
  • 61
    • 0037447089 scopus 로고    scopus 로고
    • MRNA of placental origin is readily detectable in maternal plasma
    • Ng E.K.O., et al. mRNA of placental origin is readily detectable in maternal plasma. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:4748-4753.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 4748-4753
    • Ng, E.K.O.1
  • 62
    • 18444415477 scopus 로고    scopus 로고
    • Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals
    • Ng E.K.O., et al. Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals. Clin. Chem. 2002, 48:1212-1217.
    • (2002) Clin. Chem. , vol.48 , pp. 1212-1217
    • Ng, E.K.O.1
  • 63
    • 84901049709 scopus 로고    scopus 로고
    • Noninvasive in vivo monitoring of tissue-specific global gene expression in humans
    • Koh W., et al. Noninvasive in vivo monitoring of tissue-specific global gene expression in humans. Proc. Natl. Acad. Sci. U.S.A. 2014, 111:7361-7366.
    • (2014) Proc. Natl. Acad. Sci. U.S.A. , vol.111 , pp. 7361-7366
    • Koh, W.1
  • 64
    • 84878152406 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
    • Mazloom A.R., et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat. Diagn. 2013, 33:591-597.
    • (2013) Prenat. Diagn. , vol.33 , pp. 591-597
    • Mazloom, A.R.1
  • 65
    • 84896698058 scopus 로고    scopus 로고
    • Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis
    • Nicolaides K.H., et al. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn. Ther. 2014, 35:1-6.
    • (2014) Fetal Diagn. Ther. , vol.35 , pp. 1-6
    • Nicolaides, K.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.