Sort   by:  
 Page size 
GenomicsFiltering and Annotation of Variants That Are Rare (FAVR)

The project developed a suite of new methods (FAVR) designed to assist the shortlisting of genetic variants under a rare variant-phenotype/disease model. The methods were designed to work with commonly used massively parallel sequencing analysis pipelines, such as the GATK or ANNOVAR, and have be...

phs000601.v1.p1 | EGA
ProteomicsThe Functions of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable In Vivo
This dataset includes BioID for SEC23A and SEC23B. The paper describes the functional redundancy of these two gene paralogs in the context of human disease.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-11-09 | MSV000081703 | MassIVE
ProteomicsProteomeTools
The ProteomeTools project aims to derive molecular and digital tools from the human proteome to facilitate biomedical and life science research. Here, we describe the generation and multimodal LC-MS/MS analysis of >350,000 synthetic tryptic peptides representing nearly all canonical human gene produ...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-02-10 | MSV000080544 | MassIVE
GenomicsWhole Genome Sequencing of a Triple Negative Breast Cancer Patient: Matched Primary Tumor, Normal, Metastasis and Xenograft samples

Breast Cancer Subject Participant ID 700064 (Source Sample names: 6888 and 206). We used massively parallel DNA sequencing technologies to screen entire genomes, in an unbiased manner, for genetic changes associated with tumor growth and metastasis. We describe the complete genome sequence ...

phs000245.v1.p1 | EGA
UnknownEnteral omega-3 fatty acid, gamma-linolenic acid, and antioxidant supplementation in acute lung injury.
Not available
S-EPMC3770348 | biostudies-literature
UnknownGenome-wide association studies identify four ER negative-specific breast cancer risk loci.
Not available
S-EPMC3771695 | biostudies-literature
UnknownPALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Not available
S-EPMC5200636 | biostudies-literature
UnknownPlasma AR Alterations and Timing of Intensified Hormone Treatment for Prostate Cancer: the STAMPEDE Phase 3 Randomized Clinical Trial.
Not available
S-EPMC11869088 | biostudies-literature
UnknownProtecting stable biological nomenclatural systems enables universal communication: A collective international appeal.
Not available
S-EPMC11328142 | biostudies-literature
UnknownThe African Critical Illness Outcomes Study (ACIOS): a point prevalence study of critical illness in 22 nations in Africa.
Not available
S-EPMC11872788 | biostudies-literature
Sort   by:  
 Page size