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Browsing Tag

Bioinformatics

17 posts
GGenetics
SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology
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SPAmix: a scalable, accurate, and universal analysis framework for large-scale genetic association studies in admixed populations | Genome Biology

  • October 16, 2025
Model residuals of linear regression and logistic regression Linear regression and logistic regression are regular models to fit…
GGenetics
SAGPEK: fast and flexible approach to identify genotypes of Sanger sequencing data | BMC Bioinformatics
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SAGPEK: fast and flexible approach to identify genotypes of Sanger sequencing data | BMC Bioinformatics

  • October 14, 2025
Software architecture SAGPEK mainly processes Sanger sequencing results of two kinds of samples: diploids such as humans and…
GGenetics
A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology
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A novel gene expression stability metric to unveil homeostasis and regulation | Genome Biology

  • October 10, 2025
K-proportion and gene homeostasis Z-Index identify regulatory genes As cells of the same type and in the same…
SScience
‘Google for DNA’ brings order to biology’s big data
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‘Google for DNA’ brings order to biology’s big data

  • October 9, 2025
MetaGraph indexes and vast archives of DNA, RNA, and protein sequences. Scientists can search the archives and trace…
GGenetics
Advances in haplotype phasing and genotype imputation
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Advances in haplotype phasing and genotype imputation

  • September 24, 2025
Voight, B. F., Kudaravalli, S., Wen, X. & Pritchard, J. K. A map of recent positive selection in…
GGenetics
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders

  • September 22, 2025
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
PPhysics
MSnLib: efficient generation of open multi-stage fragmentation mass spectral libraries
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MSnLib: efficient generation of open multi-stage fragmentation mass spectral libraries

  • September 15, 2025
Materials All solvents used were of LC–MS grade. Methanol, acetonitrile, water and formic acid were obtained from Thermo…
GGenetics
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

  • September 6, 2025
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
GGenetics
Neurobehavioral profile of individuals with pathogenic variants in CHD3
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Neurobehavioral profile of individuals with pathogenic variants in CHD3

  • August 19, 2025
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
GGenetics
GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics
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GenMasterTable: a user-friendly desktop application for filtering, summarising, and visualising large-scale annotated genetic variants | BMC Bioinformatics

  • August 13, 2025
GenMasterTable is a standalone, cross-platform desktop application developed in Python to facilitate scalable genomic data analysis. It integrates…
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