"variant priorization" trang 2 - tải miễn phí từ tailieuXANH
Adult osteoporosis with a history of childhood-onset fracture due to an lrp5 receptor variant mutation

Adult osteoporosis with a history of childhood-onset fracture due to an lrp5 receptor variant mutation
3    58    0
Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: Case report of incidentally detected Cowden syndrome

Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: Case report of incidentally detected Cowden syndrome
5    50    0
Prognostic significance of RBP2-H1 variant of JARID1B in melanoma

Prognostic significance of RBP2-H1 variant of JARID1B in melanoma
7    79    0
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients
12    55    0
A novel variant on chromosome 6p21.1 is associated with the risk of developing colorectal cancer: A two-stage case-control study in Han Chinese

A novel variant on chromosome 6p21.1 is associated with the risk of developing colorectal cancer: A two-stage case-control study in Han Chinese
10    61    0
A genetic variant of the NTCP gene is associated with HBV infection status in a Chinese population

A genetic variant of the NTCP gene is associated with HBV infection status in a Chinese population
8    97    0
TRAIL-receptor preferences in pancreatic cancer cells revisited: Both TRAIL-R1 and TRAIL-R2 have a licence to kill

TRAIL-receptor preferences in pancreatic cancer cells revisited: Both TRAIL-R1 and TRAIL-R2 have a licence to kill
11    68    0
Plasmacytoid variant of bladder cancer defines patients with poor prognosis if treated with cystectomy and adjuvant cisplatin-based chemotherapy

Plasmacytoid variant of bladder cancer defines patients with poor prognosis if treated with cystectomy and adjuvant cisplatin-based chemotherapy
8    74    0
Antimicrobial activity of black fruit variant of Solanum nigrum L

Antimicrobial activity of black fruit variant of Solanum nigrum L
8    81    0
Loqusdb: Added value of an observations database of local genomic variation

Loqusdb: Added value of an observations database of local genomic variation
10    43    0
Rare variant phasing using paired tumor: Normal sequence data

Rare variant phasing using paired tumor: Normal sequence data
11    56    0
Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data

Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data
11    55    0
ADS-HCSpark: A scalable HaplotypeCaller leveraging adaptive data segmentation to accelerate variant calling on Spark

ADS-HCSpark: A scalable HaplotypeCaller leveraging adaptive data segmentation to accelerate variant calling on Spark
13    55    0
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    59    0
ToTem: A tool for variant calling pipeline optimization

ToTem: A tool for variant calling pipeline optimization
9    55    0
Predicting variant deleteriousness in non-human species: Applying the CADD approach in mouse

Predicting variant deleteriousness in non-human species: Applying the CADD approach in mouse
10    52    0
TNER: A novel background error suppression method for mutation detection in circulating tumor DNA

TNER: A novel background error suppression method for mutation detection in circulating tumor DNA
7    92    0
OVAS: An open-source variant analysis suite with inheritance modelling

OVAS: An open-source variant analysis suite with inheritance modelling
10    59    0
PyAmpli: An amplicon-based variant filter pipeline for targeted resequencing data

PyAmpli: An amplicon-based variant filter pipeline for targeted resequencing data
6    53    0
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    59    0
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