官方服务：
资源简介：
Human whole genome sequences of 5 familial CJD patients with V180I
应用场景：
创建时间：
2016-01-17
相关数据集
Additional file 4: of Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism
CNVs validation using TaqMan CNV assays and QuantStudioÂŽ 3D Digital PCR System. Listed the samples tested for CNV validating and the results. (XLSX 10Â kb)
NIAID Data Ecosystem50
ena-DATASET-UMCU-01-08-2017-10:46:58:250-1341 - samples
BAM files with sequencing reads derived from Oxford Nanopore MinION whole genome sequencing of two DNA samples from lymphoblastoid cell lines from two patients with congenital disease. Samples were pr
NIAID Data Ecosystem40
Additional file 3 of A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene
Additional file 3: Table S2. List of homozygous positional candidate variants found in the genomes of two RDCP-affected calves. Chr: Chromosome. "Present_in_39_Aubrac_controls" and "Present_in_1828_co
Figshare2025-05-21 更新20
Mosaic Chromosomal Aneuploidy. Mosaic Chromosomal Aneuploidy
Mosaic chromosomal aneuploidy occurs when only a subset of cells carries an abnormal number of chromosomes. Mosaic aneuploidy has been reported in multiple types of diseases. Here we have developed a
NIAID Data Ecosystem40
Homo sapiens Raw sequence reads. Homo sapiens
Blood and brain paired whole exome seuquencing data of focal cortical dysplasiaII patients
NIAID Data Ecosystem30
