ena-DATASET-HI-29-08-2017-10:48:07:496-36 - samples

This dataset consists of TLA data in the parents of 9 healthy families and 11 B-thalasemia risk families during pregnancy, cell-free DNA sequencing data and Fetal DNA sequencing where available.

TLA data was collected for the CFTR region in all healthy families and the CYP21A2 region in two of the healthy families.
TLA data was collected for the HBB region in the risk families.
In each pregnant mother, cell-free DNA was collected, enriched for the region of interest using sureselect pulldown and sequenced.
Samples are labled Mother_X, Father_X and CVS_X for the healthy families and HBB_Mother_X, HBB_Father_X and HBB_CVS_X.
cfDNA files can be found under the maternal sample, and each consist of three indices used to increase the maximum number of unique molecules per SNP.
Both raw and processed cfDNA data is provided, raw data is mapped using BWA MEM, sorted using samtools and restricted to the region of interest for the sake of patient privacy.
Processed data is mapped using BWA MEM, sorted using samtools, duplicate filtered using samtools rmdup, overlap-clipped using picardtools and restricted to the region of interest.EGA dataset EGAD00001003595