Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (120 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1... Mehr ...
Verfasser: |
Kloosterman, W.P.
Francioli, L.C.
Hormozdiari, F.
Marschall, T.
Hehir-Kwa, J.Y.
Abdellaoui, A.
Lameijer, E.W.
Moed, M.H.
Koval, V.
Renkens, I.
van Roosmalen, M.J.
Arp, P.
Karssen, L.C.
Coe, B.P.
Handsaker, R.E.
Suchiman, H.E.D.
Cuppen, E.
Tjwan Thung, D.
McVey, M.
Wendl, M.C.
Uitterlinden, A.G.
van Duijn, C.M.
Swertz, M.A.
Wijmenga, C.
van Ommen, G.J.B
Slagboom, P.E.
Boomsma, D.I.
Schönhuth, A.
Eichler, E.E.
Bakker, P.I.W.
Ye, K.
Guryev, V. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2015 |
Reihe/Periodikum: |
Kloosterman , W P , Francioli , L C , Hormozdiari , F , Marschall , T , Hehir-Kwa , J Y , Abdellaoui , A , Lameijer , E W , Moed , M H , Koval , V , Renkens , I , van Roosmalen , M J , Arp , P , Karssen , L C , Coe , B P , Handsaker , R E , Suchiman , H E D , Cuppen , E , Tjwan Thung , D , McVey , M , Wendl , M C , Uitterlinden , A G , van Duijn , C M , Swertz , M A , Wijmenga , C , van Ommen , G J B , Slagboom , P E , Boomsma , D I , Schönhuth , A , Eichler , E E , Bakker , P I W , Ye , K & Guryev , V 2015 , ' Characteristics of de novo structural changes in the human genome ' , Genome Research , vol. 25 , no. 6 , pp. 792-801 . https://doi.org/10.1101/gr.185041.114 |
Schlagwörter: |
/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_
/ name=Netherlands Twin Register (NTR) |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26843318 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://research.vu.nl/en/publications/1a0de1a4-5a22-4499-9f21-6b604428f983 |