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UnknownHigh myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Not available
S-EPMC3169819 | biostudies-literature
UnknownComparison Of Hospitals Participating In Medicare's Voluntary And Mandatory Orthopedic Bundle Programs.
Not available
S-EPMC7703802 | biostudies-literature
ProteomicsAntigen Presentation Profiling Reveals T-cell Recognition of Lymphoma Immunoglobulin Neoantigens
Cancer somatic mutations can generate neoantigens that distinguish malignant from normal cells. Such neoantigens have been implicated in response to immunotherapies including immune checkpoint blockade, yet their identification and validation remains challenging. Here we discover neoantigens in hu...
ORGANISM(S): Homo sapiens (Human) 
2017-03-27 | PXD004746 | Pride
Human Mhc Mantle cell lymphoma Antigen presentation Ltq orbitrap elite 
ProteomicsAntigen Presentation Profiling Reveals T-cell Recognition of Lymphoma Immunoglobulin Neoantigens
Cancer somatic mutations can generate neoantigens that distinguish malignant from normal cells. Such neoantigens have been implicated in response to immunotherapies including immune checkpoint blockade, yet their identification and validation remains challenging. Here we discover neoantigens in huma...
ORGANISM(S): Homo sapiens (Human) 
2017-03-27 | PXD005704 | Pride
Human Antigen presentation Ltq orbitrap elite Mhc class i 
UnknownImpact of centre volume, surgeon volume, surgeon experience and geographic location on reoperation after intramedullary nailing of tibial shaft fractures
Not available
S-EPMC8410470 | biostudies-literature
GenomicSporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations

It is well established that autism spectrum disorders (ASD) have a strong genetic component; however, for at least 70% of cases, the underlying genetic cause is unknown. Under the hypothesis that de novo mutations underlie a substantial fraction of the risk for developing ASD in families with no ...

phs000482 | dbGaP
Genomicsena-DATASET-GoT2D/T2D-GENES-09-07-2016-02:03:47:226-1135 - samples
The GoT2D study includes ~2800 samples, half T2D cases and half T2D controls, of Northern European ancestry sequenced over 3 three technologies: deep whole exome sequencing, low-pass (4x) whole genome sequencing, and OMNI 2.5M genotyping. Samples were ascertained to be phenotypically "extreme" (e.g....
EGAD00001002247 | EGA
GenomicsImputation analysis file
This data set includes the following summary level data file used for the imputation data: imputation.sv.assoc.txt: results from single variant association analysis in imputed samples
EGAD00010001184 | EGA
Genomics13K T2D-GENES analysis files
This data set includes the following summary level data files used for the 13k analysis of T2D-GENES data: wes.variants.list: list of variants to keep for any analysis of the exomes data wes.assoc.samples.list: list of samples to keep for association analysis wes.assoc.variants.list: list of variant...
EGAD00010001188 | EGA
GenomicsGoT2D WGS analysis files
This data set includes the following summary level data files used for the GoT2D WGS analysis: wgs.assoc.samples.list: list of samples to keep for association analysis wgs.assoc.variants.list: list of variants to keep for association analysis wgs.sv.assoc.txt: single variant association results
EGAD00010001185 | EGA
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