Whole exome and genome sequencing investigations of perinatal death

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001009737	The .cram files of the Trio or Quad sequencing data used for generation of the genomic autopsy study. This contains a mix of genome sequencing and exome sequencing data for probands and their parents. A subset of families (n=32) did not provide consent to publicly sharing their data.	Illumina HiSeq 2000 Illumina NovaSeq 6000 NextSeq 500	156

Publications	Citations
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A, Broad Institute Center for Mendelian Genomics, Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H, Genomic Autopsy Study Research Network, McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Nat Med 29: 2023 180-189	9

Publications

Citations

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A, Broad Institute Center for Mendelian Genomics, Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H, Genomic Autopsy Study Research Network, McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Nat Med 29: 2023 180-189