"variant prioritisation" trang 3 - tải miễn phí từ tailieunhanh
OVAS: An open-source variant analysis suite with inheritance modelling

OVAS: An open-source variant analysis suite with inheritance modelling
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PyAmpli: An amplicon-based variant filter pipeline for targeted resequencing data

PyAmpli: An amplicon-based variant filter pipeline for targeted resequencing data
6    68    1
ISVASE: Identification of sequence variant associated with splicing event using RNAseq data

ISVASE: Identification of sequence variant associated with splicing event using RNAseq data
7    68    1
Impact of post-alignment processing in variant discovery from whole exome data

Impact of post-alignment processing in variant discovery from whole exome data
13    75    1
TarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

TarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine
13    58    1
Analysis of optimal alignments unfolds aligners’ bias in existing variant profiles

Analysis of optimal alignments unfolds aligners’ bias in existing variant profiles
8    45    1
A hybrid computational strategy to address WGS variant analysis in >5000 samples

A hybrid computational strategy to address WGS variant analysis in >5000 samples
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Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies

Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies
14    62    1
Feature selection algorithm based on dual correlation filters for cancer‑associated somatic variants

Feature selection algorithm based on dual correlation filters for cancer‑associated somatic variants
19    39    1
Comparing variant calling algorithms for target-exon sequencing in a large sample

Comparing variant calling algorithms for target-exon sequencing in a large sample
10    45    1
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: A case report

A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: A case report
8    29    1
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: Sibling case report and literature review

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: Sibling case report and literature review
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Small airway dysfunction in patients with cough variant asthma: A retrospective cohort study

Small airway dysfunction in patients with cough variant asthma: A retrospective cohort study
8    27    1
Cruxome: A powerful tool for annotating, interpreting and reporting genetic variants

Cruxome: A powerful tool for annotating, interpreting and reporting genetic variants
9    46    1
Towards a better understanding of the low recall of insertion variants with short-read based variant callers

Towards a better understanding of the low recall of insertion variants with short-read based variant callers
17    23    1
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins

Benchmarking subcellular localization and variant tolerance predictors on membrane proteins
15    44    1
RADAR: Annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins

RADAR: Annotation and prioritization of variants in the post-transcriptional regulome of RNA-binding proteins
13    24    1
PRINCESS: Comprehensive detection of haplotype resolved SNVs, SVs, and methylation

PRINCESS: Comprehensive detection of haplotype resolved SNVs, SVs, and methylation
17    44    1
Bovine breed-specific augmented reference graphs facilitate accurate sequence read mapping and unbiased variant discovery

Bovine breed-specific augmented reference graphs facilitate accurate sequence read mapping and unbiased variant discovery
27    61    1
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection

PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection
25    51    1