genieus/ga4k

We are working hard to make progress for patients with genetic disease!

Genomic Answers for Kids

The Children’s Mercy Research Institute is undertaking a research initiative to build a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. Our goal is to collect genomic data and health information for 30,000 children and their families over the next seven years, creating a database of nearly 100,000 genomes. For more details, please visit:

https://www.childrensmercy.org/childrens-mercy-research-institute/studies-and-trials/genomic-answers-for-kids/

This repo contains high-quality long read sequencing data accompanying the analysis of first 1000+ probands and their familes (XXX et al; doi: YYY). The following describes the content of each subdirectory:

• pacbio_snv_vcf/ : High-quality PacBio small variant (SNV) vcf files.
• pacbio_sv_vcf/ : High-quality PacBio structural variant (SV) vcf files.

Genome Build for the vcf files: GRCh38