The repository contains whoe exome sequence and variant files from four families.

For Families 1-3, DNA derived from peripheral blood, sequenced on an Illumina HiSeq2000 sequencer at the Wellcome Trust Centre for Human Genomics using the Agilent SureSelect v5 capture kit encompassing 51 Mb of genome sequence. Exome sequencing of the parents and proband of Family 4 was performed using the NimbleGen Human SeqCap EZ v3.0 Kit and the Illumina HiSeq2000 system for sequencing according to the manufacturers’ protocols.

The following sequence files (in fastq format) are available:
Family1-Patient1: fam1_pat1_1.fastq.gz and fam1_pat1_2.fastq.gz
Family2-Patient1: fam2_pat1_1.fastq.gz and fam2_pat1_2.fastq.gz
Family3-Patient1: fam3_pat1_1.fastq.gz and fam3_pat1_2.fastq.gz
Family4-Patient1: fam4_pat1_1.fastq.gz.part01, fam4_pat1_1.fastq.gz.part02, fam4_pat1_2.fastq.gz.part01 and fam4_pat1_2.fastq.gz.part02
Family4-Mother: fam4_mom_1.fastq.gz.part01, fam4_mom_1.fastq.gz.part02, fam4_mom_2.fastq.gz.part01 and fam4_mom_2.fastq.gz.part02

The variant file (in vcf format) are available:
VCF.zip contains the following files:
Family1_Patient1.vcf, Family2_Patient1.vcf, Family3_Patient1.vcf, Family4_Patient1.vcf and Family4_Mother.vcf

Downloading these files are restricted and available by acquiring permission only. For accessing the data please e-mail to Dr. Deborah Mackay (D.J.G.Mackay@soton.ac.uk)