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

• Antragsteller: Professor Dr. Peter Krawitz
• Fachliche Zuordnung: Humangenetik
• Förderung: Förderung von 2011 bis 2015
• Projektkennung: Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 201735836

• Erstellungsjahr: 2015

Zusammenfassung der Projektergebnisse

Keine Zusammenfassung vorhanden

Projektbezogene Publikationen (Auswahl)

• 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.
  
• 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.
  
• 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.
  
• 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.
  
• 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.
  
• 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.
  
• 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.
  
• 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.