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UnknownLung cancer diagnosis through extracellular vesicle analysis using label-free surface-enhanced Raman spectroscopy coupled with machine learning.
Rationale: Label-free surface-enhanced Raman spectroscopy (SERS) based on extracellular vesicles (EVs) has great potential in cancer diagnosis. However, the repeatability and stability of the SERS signals and the accurate early prediction of multiple cell types based on a small number of samp...
S-EPMC12315814 | biostudies-literature
UnknownIntegrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel.
A major use of the 1000 Genomes Project (1000 GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same ...
S-EPMC4338501 | biostudies-literature
UnknownIntegrative annotation of variants from 1092 humans: application to cancer genomics.
Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and...
S-EPMC3947637 | biostudies-literature
UnknownA global reference for human genetic variation.
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals fro...
S-EPMC4750478 | biostudies-literature
UnknownAn integrated map of genetic variation from 1,092 human genomes.
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of ...
S-EPMC3498066 | biostudies-literature
UnknownHuman genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Background

Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have previously investigated the pattern of genetic differentiation among human p...
S-EPMC4197830 | biostudies-literature
UnknownPrevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study.

Purpose

Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in ad...
S-EPMC7880913 | biostudies-literature
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