메뉴 건너뛰기




Volumn 8, Issue , 2014, Pages

De novo mutations discovered in 8 Mexican American families through whole genome sequencing

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUTOSOME; CONFERENCE PAPER; CONTROLLED STUDY; DE NOVO MUTATION; FAMILY; FEMALE; HAPLOIDY; HUMAN; HUMAN GENOME; MALE; MEXICAN AMERICAN; MUTATION; MUTATION RATE; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE VARIANTS; WHOLE GENOME SEQUENCING; YOUNG ADULT;

EID: 85018193096     PISSN: None     EISSN: 17536561     Source Type: Journal    
DOI: 10.1186/1753-6561-8-S1-S24     Document Type: Conference Paper
Times cited : (9)

References (17)
  • 3
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium 10.1038/nature09534
    • 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA: A map of human genome variation from population-scale sequencing. Nature. 2010, 467: 1061-1073. 10.1038/nature09534.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.D.4    Durbin, R.M.5    Gibbs, R.A.6    Hurles, M.E.7    McVean, G.A.8
  • 5
    • 0037224621 scopus 로고    scopus 로고
    • Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases
    • Kondrashov AS: Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases. Hum Mutat. 2003, 21: 12-27. 10.1002/humu.10147.
    • (2003) Hum Mutat , vol.21 , pp. 12-27
    • Kondrashov, A.S.1
  • 6
    • 0033828761 scopus 로고    scopus 로고
    • Estimate of the mutation rate per nucleotide in humans
    • 1461236 1:CAS:528:DC%2BD3cXntVylt74%3D 10978293
    • Nachman MW, Crowell SL: Estimate of the mutation rate per nucleotide in humans. Genetics. 2000, 156: 297-304.
    • (2000) Genetics , vol.156 , pp. 297-304
    • Nachman, M.W.1    Crowell, S.L.2
  • 9
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009, 4: 1073-1081. 10.1038/nprot.2009.86.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 10
    • 70349414656 scopus 로고    scopus 로고
    • PDZ-domain containing-2 (PDZD2) drives the maturity of human fetal pancreatic progenitor-derived islet-like cell clusters with functional responsiveness against membrane depolarization
    • Leung KK, Suen PM, Lau TK, Ko WH, Yao KM, Leung PS: PDZ-domain containing-2 (PDZD2) drives the maturity of human fetal pancreatic progenitor-derived islet-like cell clusters with functional responsiveness against membrane depolarization. Stem Cells Dev. 2009, 18: 979-990. 10.1089/scd.2008.0325.
    • (2009) Stem Cells Dev , vol.18 , pp. 979-990
    • Leung, K.K.1    Suen, P.M.2    Lau, T.K.3    Ko, W.H.4    Yao, K.M.5    Leung, P.S.6
  • 11
    • 0034740693 scopus 로고    scopus 로고
    • Mechanism and role of PDZ domains in signaling complex assembly
    • 1:CAS:528:DC%2BD3MXns1Gns74%3D 11591811
    • Harris BZ, Lim WA: Mechanism and role of PDZ domains in signaling complex assembly. J Cell Sci. 2001, 114: 3219-3231.
    • (2001) J Cell Sci , vol.114 , pp. 3219-3231
    • Harris, B.Z.1    Lim, W.A.2
  • 14
    • 0018185292 scopus 로고
    • Molecular basis of base substitution hotspots in Escherichia coli
    • Coulondre C, Miller JH, Farabaugh PJ, Gilbert W: Molecular basis of base substitution hotspots in Escherichia coli. Nature. 1978, 274: 775-780. 10.1038/274775a0.
    • (1978) Nature , vol.274 , pp. 775-780
    • Coulondre, C.1    Miller, J.H.2    Farabaugh, P.J.3    Gilbert, W.4
  • 15
    • 24344500211 scopus 로고    scopus 로고
    • Initial sequence of the chimpanzee genome and comparison with the human genome
    • Chimpanzee Sequencing and Analysis Consortium 10.1038/nature04072
    • Chimpanzee Sequencing and Analysis Consortium: Initial sequence of the chimpanzee genome and comparison with the human genome. Nature. 2005, 437: 69-87. 10.1038/nature04072.
    • (2005) Nature , vol.437 , pp. 69-87
  • 16
    • 76649122154 scopus 로고    scopus 로고
    • Detecting rare variants for complex traits using family and unrelated data
    • Zhu X, Feng T, Li Y, Lu Q, Elston RC: Detecting rare variants for complex traits using family and unrelated data. Genet Epidemiol. 2010, 34: 171-187. 10.1002/gepi.20449.
    • (2010) Genet Epidemiol , vol.34 , pp. 171-187
    • Zhu, X.1    Feng, T.2    Li, Y.3    Lu, Q.4    Elston, R.C.5
  • 17
    • 79958077854 scopus 로고    scopus 로고
    • Detecting rare and common variants for complex traits: Sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS)
    • Feng T, Elston RC, Zhu X: Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS). Genet Epidemiol. 2011, 35: 398-409. 10.1002/gepi.20588.
    • (2011) Genet Epidemiol , vol.35 , pp. 398-409
    • Feng, T.1    Elston, R.C.2    Zhu, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.