"Rare variant" trang 1 - tải miễn phí từ tailieunhanh
Real world scenarios in rare variant association analysis: The impact of imbalance and sample size on the power in silico

Real world scenarios in rare variant association analysis: The impact of imbalance and sample size on the power in silico
10    56    1
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
Loqusdb: Added value of an observations database of local genomic variation

Loqusdb: Added value of an observations database of local genomic variation
10    54    1
GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases

GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
6    60    1
MARV: A tool for genome-wide multiphenotype analysis of rare variants

MARV: A tool for genome-wide multiphenotype analysis of rare variants
8    39    1
Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers

Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers
14    43    1
On rare variants in principal component analysis of population stratification

On rare variants in principal component analysis of population stratification
11    5    1
Identifying rare variants for quantitative traits in extreme samples of population via Kullback-Leibler distance

Identifying rare variants for quantitative traits in extreme samples of population via Kullback-Leibler distance
9    11    1
A phenome-wide scan reveals convergence of common and rare variant associations

A phenome-wide scan reveals convergence of common and rare variant associations
13    15    1
Genome sequencing as a generic diagnostic strategy for rare disease

Genome sequencing as a generic diagnostic strategy for rare disease
11    12    1
Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: Evidence from a large-scale replication study

Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: Evidence from a large-scale replication study
6    36    1
Rare variant phasing using paired tumor: Normal sequence data

Rare variant phasing using paired tumor: Normal sequence data
11    75    1
A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1

A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
6    90    0
Invasive cystic hypersecretory carcinoma of the breast: A rare variant of breast cancer: A case report and review of the literature

Invasive cystic hypersecretory carcinoma of the breast: A rare variant of breast cancer: A case report and review of the literature
5    56    1
A rare case of primary clear cell sarcoma of the pubic bone resembling small round cell tumor: An unusual morphological variant

A rare case of primary clear cell sarcoma of the pubic bone resembling small round cell tumor: An unusual morphological variant
4    36    1
Integrating 400 million variants from 80,000 human samples with extensive annotations: Towards a knowledge base to analyze disease cohorts

Integrating 400 million variants from 80,000 human samples with extensive annotations: Towards a knowledge base to analyze disease cohorts
13    50    1
Primary intradural extramedullary spinal mesenchymal chondrosarcoma: Case report and literature review

Primary intradural extramedullary spinal mesenchymal chondrosarcoma: Case report and literature review
6    27    1
Association of a rare NOTCH4 coding variant with systemic sclerosis: A family-based whole exome sequencing study

Association of a rare NOTCH4 coding variant with systemic sclerosis: A family-based whole exome sequencing study
6    42    1
NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans
22    28    1
An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency

An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency
10    5    1