"variant prioritization" trang 14 - tải miễn phí từ tailieunhanh
Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation

Comprehensive analysis of germline mutations in northern Brazil: A panel of 16 genes for hereditary cancer-predisposing syndrome investigation
8    36    1
Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
7    37    1
The significance of the F variant of alpha-1- antitrypsin and unique case report of a PiFF homozygote

The significance of the F variant of alpha-1- antitrypsin and unique case report of a PiFF homozygote
7    32    1
Determinants of outcome of solitary fibrous tumors of the pleura: An observational cohort study

Determinants of outcome of solitary fibrous tumors of the pleura: An observational cohort study
8    36    1
A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations

A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations
4    41    1
Cough in hypereosinophilic syndrome: Case report and literature review

Cough in hypereosinophilic syndrome: Case report and literature review
9    18    1
Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: A case report

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: A case report
5    29    1
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report
6    17    1
A case–control study of innate immunity pathway gene polymorphisms in Puerto Ricans reveals association of toll-like receptor 2 +596 variant with asthma

A case–control study of innate immunity pathway gene polymorphisms in Puerto Ricans reveals association of toll-like receptor 2 +596 variant with asthma
11    34    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
Prosthetic joint infection caused by Granulicatella adiacens: A case series and review of literature

Prosthetic joint infection caused by Granulicatella adiacens: A case series and review of literature
5    44    1
Reduced translation efficiency due to novel splicing variants in 5′ untranslated region and identification of novel cis-regulatory elements in canine and human BRCA2

Reduced translation efficiency due to novel splicing variants in 5′ untranslated region and identification of novel cis-regulatory elements in canine and human BRCA2
13    25    1
Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics

Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics
7    42    1
A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes

A genome-wide scan of copy number variants in three Iranian indigenous river buffaloes
14    53    1
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf
9    39    1
Deep sampling and pooled amplicon sequencing reveals hidden genic variation in heterogeneous rye accessions

Deep sampling and pooled amplicon sequencing reveals hidden genic variation in heterogeneous rye accessions
16    37    1
The effect of variant interference on de novo assembly for viral deep sequencing

The effect of variant interference on de novo assembly for viral deep sequencing
12    39    2
Genome-wide association analysis of canine T zone lymphoma identifies link to hypothyroidism and a shared association with mast-cell tumors

Genome-wide association analysis of canine T zone lymphoma identifies link to hypothyroidism and a shared association with mast-cell tumors
11    17    2
Tracy: Basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files

Tracy: Basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files
9    24    2
Recurrent miscalling of missense variation from short-read genome sequence data

Recurrent miscalling of missense variation from short-read genome sequence data
9    42    1