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GenomicsNon-invasive whole genome sequencing of a human fetus

The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.

phs000500.v1.p1 | EGA
UnknownAlterations in DNA Damage Response and Repair Genes as Potential Marker of Clinical Benefit From PD-1/PD-L1 Blockade in Advanced Urothelial Cancers.
Not available
S-EPMC6366295 | biostudies-literature
GenomicsGenome-wide prediction of human embryos
BACKGROUND: Preimplantation genetic diagnosis (PGD) enables profiling of embryos for genetic disorders prior to implantation. The majority of PGD testing is restricted in the scope of variants assayed or by the availability of extended family members. While recent advances in single cell sequencing ...
EGAS00001001020 | EGA
UnknownRECK Controls Breast Cancer Metastasis by Modulating a Convergent, STAT3-dependent Neoangiogenic Switch
Not available
ORGANISM(S): Homo sapiens 
S-ECPF-GEOD-56898 | biostudies-other
Genomicsena-DATASET-EMSEQ-23-07-2016-16:45:57:226-24 - samples
This dataset includes whole genome sequence information for three individuals (Mother, Father and Newborn) used in this study. Genomes were sequenced using Illumina HiSeq technology. Files included are fastq files in paired read format.
EGAD00001002257 | EGA
GenomicsData Committee for EMSEQ project
Data Access Committee EGAC00001000265
EGAC00001000265 | EGA
TranscriptomicsRECK Controls Breast Cancer Metastasis by Modulating a Convergent, STAT3-dependent Neoangiogenic Switch
Metastasis leads to the majority of deaths in breast cancer patients. Here we investigated the molecular and biochemical signaling pathways altered by RECK, a major metastasis suppressor gene in breast cancer. We overexpressed RECK in 2 highly invasive cell lines and knocked-down RECK expression in...
ORGANISM(S): Homo sapiens 
2014-09-01 | E-GEOD-56898 | biostudies-arrayexpress
UnknownATR promotes mTORC1 activity via de novo cholesterol synthesis
Not available
S-SCDT-10_1038-S44319-025-00451-3 | biostudies-other
GenomicGenetic Basis for Clinical Response to CTLA-4 Blockade in Melanoma

Immune checkpoint inhibitors are effective cancer treatments, but molecular determinants of clinical benefit are unknown. Ipilimumab and tremelimumab are antibodies against cytotoxic T-lymphocyte antigen 4 (CTLA-4). Anti-CTLA-4 treatment prolongs overall survival in patients with melanoma. CTLA-4...

phs001041 | dbGaP
UnknownEfficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.
Not available
S-EPMC7787219 | biostudies-literature
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