Key: Heterozygous, Het; Homozygous, Homo; Familial, FM; Sporadic, SP; Not available, n.a. * Frequency: No. of control carriers/ total No. of controls. Novel sequence variants detected in this study.

NIAID Data Ecosystem60

GHGA_sarek3_variant_calling_Agilent200M_WES

外显子测序

遗传变异检测

Using the sarek pipeline default values. Aligned to HG38 using bwa, and dragmap. Variants are called using either haplotypecaller, strelka, deepvariant, or freebayes. Data input was Agilent 200M WES r

NIAID Data Ecosystem50

Summary of mapping statistics across the pseudo-chromosome reference.

基因组比对分析

遗传变异检测

Mapping depth of coverage of the pseudo-chromosome reference and SNP numbers that were identified for the purebred parental lines Avalon and Cadenza plus the bulks.

Figshare2020-04-15 更新60

Additional file 8: of Achieving high-sensitivity for clinical applications using augmented exome sequencing

临床外显子组测序

遗传变异检测

daSNVs in ACMG genes where inadequate coverage was observed among at least one platform, using WES/ACE data normalized to both 12 Gb and 100Ă mean coverage. (XLSX 312Â kb)

Figshare2016-12-16 更新50

Illumina_HumanOmni2.5 - samples

资源简介：

相关数据集