"variant prioritisation" trang 14 - tải miễn phí từ tailieuXANH
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    41    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    40    1
Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics

Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics
7    48    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    172    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    33    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    24    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    209    1
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    272    1
Tracy: Basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files

Tracy: Basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files
9    197    2
Recurrent miscalling of missense variation from short-read genome sequence data

Recurrent miscalling of missense variation from short-read genome sequence data
9    196    1
A clinically validated whole genome pipeline for structural variant detection and analysis

A clinically validated whole genome pipeline for structural variant detection and analysis
8    56    1
Comparative analysis of the chicken IFITM locus by targeted genome sequencing reveals evolution of the locus and positive selection in IFITM1 and IFITM3

Comparative analysis of the chicken IFITM locus by targeted genome sequencing reveals evolution of the locus and positive selection in IFITM1 and IFITM3
14    37    1
A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle

A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle
13    69    1
CeL-ID: Cell line identification using RNAseq data

CeL-ID: Cell line identification using RNAseq data
13    53    1
Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data

Streamlined computational pipeline for genetic background characterization of genetically engineered mice based on next generation sequencing data
20    255    1
RNA sequencing and anthocyanin synthesis-related genes expression analyses in white-fruited Vaccinium uliginosum

RNA sequencing and anthocyanin synthesis-related genes expression analyses in white-fruited Vaccinium uliginosum
11    74    1
Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing

Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing
9    152    1
Genome-wide copy number variant analysis reveals variants associated with 10 diverse production traits in Holstein cattle

Genome-wide copy number variant analysis reveals variants associated with 10 diverse production traits in Holstein cattle
9    176    1
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
8    190    1
VAReporter: Variant reporter for cancer research of massive parallel sequencing

VAReporter: Variant reporter for cancer research of massive parallel sequencing
11    125    1
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