PhD thesis: PRDM9 Diversity, Recombination Landscapes and Childhood Leukaemia by Ihthisham Ali Appendix III contains hotspot activity analysis data on DNA3 and AA hotspots in a MHCII sub-region. These

Figshare2020-06-02 更新40

Variant call file of rare variants of albinism and pigmentation genes with ≤1% frequency in gnomAD [39] seen in 652 unaffected controls from the BNMS.

白血病遗传学

色素沉着遗传

The genes reported in this study include TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, KITLG, POMC, SLC24A4, TPCN2. (VCF)

NIAID Data Ecosystem40

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia

白血病遗传学

基因组测序

This is the first report of a patient with de novo AML carrying the NUP98-PMX1 fusion gene. Next-generation sequencing analysis revealed FMS-like tyrosine kinase-3 (FLT3)-internal tandem duplication (

NIAID Data Ecosystem50

Allelic specificity of IGH-DUX4 translocation in acute lymphoblastic leukemia (ALL) [H3K27Ac HiChIP]. Allelic specificity of IGH-DUX4 translocation in acute lymphoblastic leukemia (ALL) [H3K27Ac HiChIP]

白血病遗传学

生物分子相互作用分析

In Nalm6, mono-allelic interaction between IGH enhancer and IGH promoter was found from H3K27ac HiChIP data. Overall design: H3K27ac HiChIP

NIAID Data Ecosystem40