"variant prioritization" trang 4 - tải miễn phí từ tailieunhanh
The Ensembl variant effect predictor

The Ensembl variant effect predictor
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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
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GAVIN: Gene-Aware Variant INterpretation for medical sequencing

GAVIN: Gene-Aware Variant INterpretation for medical sequencing
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Cepip: Context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes

Cepip: Context-dependent epigenomic weighting for prioritization of regulatory variants and disease-associated genes
15    29    3
Structural variant calling: The long and the short of it

Structural variant calling: The long and the short of it
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Systematic comparative analysis of singlenucleotide variant detection methods from single-cell RNA sequencing data

Systematic comparative analysis of singlenucleotide variant detection methods from single-cell RNA sequencing data
15    67    3
Paragraph: A graph-based structural variant genotyper for short-read sequence data

Paragraph: A graph-based structural variant genotyper for short-read sequence data
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Conbase: A software for unsupervised discovery of clonal somatic mutations in single cells through read phasing

Conbase: A software for unsupervised discovery of clonal somatic mutations in single cells through read phasing
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Exploring experiences and needs of spousal carers of people with behavioural variant frontotemporal dementia (bvFTD) including those with familial FTD (fFTD): A qualitative study

Exploring experiences and needs of spousal carers of people with behavioural variant frontotemporal dementia (bvFTD) including those with familial FTD (fFTD): A qualitative study
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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa
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Rare variant association analysis in case-parents studies by allowing for missing parental genotypes

Rare variant association analysis in case-parents studies by allowing for missing parental genotypes
8    13    1
A comparison of three variant calling pipelines using simulated data

A comparison of three variant calling pipelines using simulated data
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The prognostic significance of histologic variant on survival outcomes in patients with metastatic urothelial carcinoma receiving immune checkpoint inhibitor therapy

The prognostic significance of histologic variant on survival outcomes in patients with metastatic urothelial carcinoma receiving immune checkpoint inhibitor therapy
10    1    1
Warthin-like variant of papillary thyroid carcinoma with lymph node metastases: A case report and review of the literature

Warthin-like variant of papillary thyroid carcinoma with lymph node metastases: A case report and review of the literature
5    6    1
Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: First adult hematopoietic stem cell transplantation for ALD in Ukraine: A case report

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: First adult hematopoietic stem cell transplantation for ALD in Ukraine: A case report
8    6    1
A presumptive association between obsessive compulsions and asymmetric temporal lobe atrophy: A case report

A presumptive association between obsessive compulsions and asymmetric temporal lobe atrophy: A case report
8    12    1
A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: A case report

A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: A case report
7    11    1
Quantitative thresholds for variant enrichment in 13,845 cases: Improving pathogenicity classifcation in genetic hearing loss

Quantitative thresholds for variant enrichment in 13,845 cases: Improving pathogenicity classifcation in genetic hearing loss
14    22    1
GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review

GM2 gangliosidosis AB variant: Novel mutation from India – a case report with a review
5    43    0
The first report of adolescent TAFRO syndrome, a unique clinicopathologic variant of multicentric Castleman’s disease

The first report of adolescent TAFRO syndrome, a unique clinicopathologic variant of multicentric Castleman’s disease
8    76    0