Results 91 to 100 of about 34,751 (136)

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia. [PDF]

open access: yesData Brief
Harsono IW   +6 more
europepmc   +1 more source

A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression. [PDF]

open access: yesFront Immunol
Li F   +9 more
europepmc   +1 more source

py_ped_sim: a flexible forward pedigree and genetic simulator for complex family pedigree analysis. [PDF]

open access: yesBMC Bioinformatics
Guardado M   +11 more
europepmc   +1 more source

Genetic architecture of the Sindhi Indian population: a 19X-STR forensic analysis. [PDF]

open access: yesBMC Genomics
Gautam K   +6 more
europepmc   +1 more source

Analytical Validation of a Genomic Newborn Screening Workflow. [PDF]

open access: yesInt J Neonatal Screen
Hovhannesyan K   +13 more
europepmc   +1 more source

Genotyping of selected germline adaptive immune system loci using short-read sequencing data. [PDF]

open access: yesGenome Res
Ford MKB   +7 more
europepmc   +1 more source

A predictive framework for stop-loss variants with C-terminal extensions. [PDF]

open access: yesNucleic Acids Res
Yoon JG   +5 more
europepmc   +1 more source

I-ETL: an interoperability-aware health (meta)data pipeline to enable federated analyses. [PDF]

open access: yesBMC Med Inform Decis Mak
Barret N   +3 more
europepmc   +1 more source

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