Release Notes 2019-10-16

DB6 Release

October 16, 2019

We are pleased to announce the newest release of MSSNG, on October 16, 2019 containing 11,364 whole genomes! The web portal for this data release can be found at https://research.mss.ng.

Details on the October 16, 2019 data release can be found in the MSSNG Researcher README (datarelease_201910)

Notable updates to the data or portal can always be found in the CHANGELOG.

Here are some high-level statistics on the data available:

Previous release (DB5) Current release (DB6)
Total genomes 7,231 11,364
ASD genomes 3,442 5,134
Families 2,720 4,231
Reference genome GRCh37/hg19 GRCh38/hg38
SNV/indel genotyping Single-sample Joint
Cohort SPX MPX Ilummina HiSeq Complete Genomics Illumina HiSeqX Total ASD GEnomes Total Genomes
AGRE 450 952 - - 1,402 729 1,402
AGRE; Autism Simplex Collection (ASC) 563 - - - 563 221 563
AGRE; Autism Treatment Network 318 20 - - 338 192 338
ASD: Genomes to Outcomes Study 4,279 1,626 291 1,240 4,374 2,889 5,905
Autism Phenome Project 221 12 - - 233 100 233
Baby Siblings Research Consortium 396 173 12 148 409 200 569
Baby Siblings Research Consortium; ASC 15 3 12 6 - 6 18
Infant Sibling Study (ISS) 107 109 12 120 84 87 216
ISS; ASC 7 4 4 7 - 4 11
iTARGET 250 197 - 9 438 189 447
Pathways in ASD 52 26 - 70 8 34 78
The Autism Simplex Collection (TASC) 457 44 267 139 95 169 501
REACH 1,083 - - 314 1,083
TOTAL 1,681 1,739 7,944 5,134 11,364

Questions can be addressed to asgenetics@autismspeaks.org.