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Targeted deep sequencing
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创建时间：
2022-02-16
相关数据集
Haemophilus influenzae Rd KW20 Genome sequencing
This study aims to detect rare variations from a single colony by deep sequencing.
NIAID Data Ecosystem60
Variants identified by whole genome sequencing for CAT and PCDHB5 loci.
Variants identified by whole genome sequencing for CAT and PCDHB5 loci.
Figshare2023-09-26 更新30
Table_2_Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene.doc
BackgroundSevere hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple
NIAID Data Ecosystem20
1137_FCH7L2KCCX2_L5_BISvveXAABBAAA-168_marked_duplicates_NmMdAndUqTag_fixed.vcf-1.gz
:unav
DataCite Commons2024-01-17 更新50
Overview of the 20 SNPs of the human POLG1 gene that is genotyped in our study by direct sequencing.
Notes.aOffsets for each SNP were calculated relative to the translation start site of the gene mRNA (POLG1 according to GenBank accession number NM_002693.2). Mutation nomenclature was verified using
Figshare2015-12-02 更新20
