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

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, Verena; Stange, Jens; Dickhaus, Thorsten; Imkeller, Peter; Krüger, Ulrike; Bauer, Sebastian; Mundlos, Stefan; Robinson, Peter N.; Hecht, Jochen & Krawitz, Peter M.
  
• GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics, Vol. 28. 2012, Issue 19, pp. 2515-2516.
  Kamphans, Tom & Krawitz, Peter 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, Peter M.; Murakami, Yoshiko; Hecht, Jochen; Krüger, Ulrike; Holder, Susan E.; Mortier, Geert R.; Delle Chiaie, Barbara; De Baere, Elfride; Thompson, Miles D.; Roscioli, Tony; Kielbasa, Szymon; Kinoshita, Taroh; Mundlos, Stefan; Robinson, Peter N. & Horn, Denise
  
• 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, Peter M.; Höchsmann, Britta; Murakami, Yoshiko; Teubner, Britta; Krüger, Ulrike; Klopocki, Eva; Neitzel, Heidemarie; Hoellein, Alexander; Schneider, Christina; Parkhomchuk, Dmitri; Hecht, Jochen; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh & Schrezenmeier, Hubert
  
• Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects. Genome Medicine, Vol. 5.2013, Issue 7: 69.
  Heinrich, Verena; Kamphans, Tom; Stange, Jens; Parkhomchuk, Dmitri; Hecht, Jochen; Dickhaus, Thorsten; Robinson, Peter N. & Krawitz, Peter M.
  
• Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. PLoS ONE, Vol. 8. 2013, Issue 8: e70151.
  Kamphans, Tom; Sabri, Peggy; Zhu, Na; Heinrich, Verena; Mundlos, Stefan; Robinson, Peter N.; Parkhomchuk, Dmitri & Krawitz, Peter 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, Peter M.; Murakami, Yoshiko; Rieß, Angelika; Hietala, Marja; Krüger, Ulrike; Zhu, Na; Kinoshita, Taroh; Mundlos, Stefan; Hecht, Jochen; Robinson, Peter N. & Horn, Denise
  
• 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, Malcolm F.; Murakami, Yoshiko; Pagnamenta, Alistair T.; Daumer-Haas, Cornelia; Fischer, Björn; Hecht, Jochen; Keays, David A.; Knight, Samantha J.L.; Kölsch, Uwe; Krüger, Ulrike; Leiz, Steffen; Maeda, Yusuke; Mitchell, Daphne; Mundlos, Stefan; Phillips, John A.; Robinson, Peter N.; Kini, Usha; Taylor, Jenny C.; Horn, Denise; ... & Krawitz, Peter M.