Cornelis A Albers

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. ncbi Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 44:435-9, S1-2. 2012
  2. ncbi Dindel: accurate indel calls from short-read data
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1HH, United Kingdom
    Genome Res 21:961-73. 2011
  3. ncbi Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:735-7. 2011
  4. ncbi The variant call format and VCFtools
    Petr Danecek
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Bioinformatics 27:2156-8. 2011
  5. ncbi A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
  6. ncbi Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011

Detail Information

Publications6

  1. ncbi Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
    Cornelis A Albers
    Department of Haematology, University of Cambridge, Cambridge, UK
    Nat Genet 44:435-9, S1-2. 2012
    ..Our data implicate Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome...
  2. ncbi Dindel: accurate indel calls from short-read data
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire CB10 1HH, United Kingdom
    Genome Res 21:961-73. 2011
    ..The algorithm is implemented in the program Dindel, which has been used in the 1000 Genomes Project call sets...
  3. ncbi Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
    Cornelis A Albers
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:735-7. 2011
    ..Silencing of nbeal2 in zebrafish abrogated thrombocyte formation...
  4. ncbi The variant call format and VCFtools
    Petr Danecek
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Bioinformatics 27:2156-8. 2011
    ..VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API. AVAILABILITY: http://vcftools.sourceforge.net..
  5. ncbi A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    ..These methods and public data will support the next phase of human genetic research...
  6. ncbi Variation in genome-wide mutation rates within and between human families
    Donald F Conrad
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:712-4. 2011
    ..These observations suggest considerable variation in mutation rates within and between families...