Vererbungsmodus-optimierte Filtermethoden für die Mutationssuche in genomischen Hochdurchsatz-Sequenzdaten

• Applicant: Professor Dr. Peter Krawitz
• Subject Area: Human Genetics
• Term: from 2011 to 2015
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 201735836

• Final Report Year: 2015

Final Report Abstract

No abstract available

Publications

• The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic acids Research, Vol. 40. 2011, Issue 6, pp. 2426-2431.
  Heinrich V., Stange J., Dickhaus T., Imkeller P., Kruger U., Bauer S., Mundlos S., Robinson P.N., Hecht J., Krawitz P.M.
  (See online at https://doi.org/10.1093/nar/gkr1073)
• GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics, Vol. 28. 2012, Issue 19, pp. 2515-2516.
  Kamphans T., Krawitz P.M.
  (See online at https://doi.org/10.1093/bioinformatics/bts462)
• Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American journal of human genetics, Vol. 91. 2012, Issue 1, pp. 146–151.
  Krawitz P.M., Murakami Y., Hecht J., Kruger U., Holder S.E., Mortier G.R., Delle Chiaie B., De Baere E., Thompson M.D., Roscioli T., Kielbasa S., Kinoshita T., Mundlos S., Robinson P.N., Horn D.
  (See online at https://doi.org/10.1016/j.ajhg.2012.05.004)
• A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood, Vol. 122. 2013, pp. 1312-1315.
  Krawitz P.M., Höchsmann B., Murakami Y., Teubner B., Kruger U., Klopocki E., Neitzel H., Hoellein A., Schneider C., Parkhomchuk D., Hecht J., Robinson P.N., Mundlos S., Kinoshita T., Schrezenmeier H.
  (See online at https://doi.org/10.1182/blood-2013-01-481499)
• Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Medicine, Vol. 5.2013, Issue 7: 69.
  Heinrich V., Kamphans T., Stange J., Parkhomchuk D., Hecht J., Dickhaus T., Robinson P.N., Krawitz P.M.
  (See online at https://doi.org/10.1186/gm473)
• Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS ONE, Vol. 8. 2013, Issue 8: e70151.
  Kamphans T., Sabri P., Zhu N., Heinrich V., Mundlos S., Robinson P.N., Parkhomchuk D., Krawitz P.M.
  (See online at https://doi.org/10.1371/journal.pone.0070151)
• PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. American journal of human genetics, Vol. 92. 2013, Issue 4, pp. 584–589.
  Krawitz P.M., Murakami Y., Riess A., Hietala M., Kruger U., Zhu N., Kinoshita T., Mundlos S., Hecht J., Robinson P.N., Horn D.
  (See online at https://doi.org/10.1016/j.ajhg.2013.03.011)
• Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. American journal of human genetics, Vol. 94. 2014, Issue 2, pp. 278–287.
  Howard M.F., Murakami Y., Pagnamenta A.T., Daumer-Haas C., Fischer B., Hecht J., Keays D.A., Knight S.J., Kolsch U., Kruger U., Leiz S., Maeda Y., Mitchell D., Mundlos S., Phillips J.A. 3rd, Robinson P.N., Kini U., Taylor J.C., Horn D., Kinoshita T., Krawitz P.M.
  (See online at https://doi.org/10.1016/j.ajhg.2013.12.012)