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444
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switching from illumination to NEB prep kits
NEB WGS WES illumina
updated 10 months ago by 141k • written 10 months ago by ▴ 180
0
votes
0
replies
797
views
panel of normals for mutect2
mutect2 gatk NGS PoN somatic
3.0 years ago by lait ▴ 180
0
votes
1
reply
1.4k
views
an efficient way to annotate mutations from vcf files using multiple annotation files
vep ensembl cadd clinvar lovd
updated 3.7 years ago by 20 • written 4.4 years ago by ▴ 180
0
votes
0
replies
926
views
VCF files never get annotated with PG tag for CalculateGenotypePosteriors
GATK CalculateGenotypePosteriors denovo Genotype
updated 4.1 years ago by 20 • written 4.3 years ago by ▴ 180
1
vote
2
replies
1.8k
views
error bcftools isec
bcftools vcf tabix
updated 4.4 years ago by ★ 16k • written 4.4 years ago by ▴ 180
7
votes
3
replies
1.3k
views
number of cycles, Nextseq500, for whole exoems equencing, which option is more efficient?
hiseq nextseq cycles reads-length
updated 4.7 years ago by ★ 1.1k • written 4.7 years ago by ▴ 180
2
votes
3
replies
1.0k
views
EXCAVATOR shows 1 deletion which is not TRUE in IGV
excavator igv wes exome cnv
4.9 years ago by lait ▴ 180
1
vote
1
reply
722
views
bionano's raw data of images, safe to delete?
bionano molecules rawdata
5.0 years ago by lait ▴ 180
2
votes
4
replies
1.4k
views
bionano hybrid scaffold
WES bionano optical mapping illumina
updated 5.0 years ago by 47k • written 5.0 years ago by ▴ 180
8
votes
4
replies
2.1k
views
tool to detect large deletions
deletions IGV wes
updated 5.0 years ago by ▴ 460 • written 5.0 years ago by ▴ 180
1
vote
0
replies
1.0k
views
putative mosaic mutations
mosaic de novo wes sequencing
5.2 years ago by lait ▴ 180
6
votes
14
replies
3.0k
views
find coverage of specific exomes from a bam file
coverage bedtools genomecov bam bed
updated 5.5 years ago by 161k • written 5.5 years ago by ▴ 180
8
votes
7
replies
2.7k
views
snps/indels with individual genotypes from 1000 genomes ftp site
1000 genomes ftp genotypes vcf
updated 22 months ago by • 0 • written 5.7 years ago by ▴ 180
4
votes
7
replies
4.6k
views
most efficient way to read from large vcf files
vcf
5.7 years ago by lait ▴ 180
0
votes
0
replies
970
views
how to get genomic position from protein pdb ID+AA residue position within the protein
pdb pisite protein protein-protein interaction
5.7 years ago by lait ▴ 180
9
votes
15
replies
2.8k
views
is this a potential mosaicism?
mosaicism denovo IGV BAM alignment
5.7 years ago by lait ▴ 180
2
votes
1
reply
1.3k
views
haplotype phasing in duos
haplotype phasing trios duos RNA-Seq
updated 5.8 years ago by ▴ 60 • written 6.0 years ago by ▴ 180
0
votes
0
replies
979
views
processing parent-child duos
duos ngs exome sequencing denovo
5.9 years ago by lait ▴ 180
4
votes
4
replies
2.1k
views
sample mixing when demultiplexing
demultiplex WES human samples NGS BAM
6.1 years ago by lait ▴ 180
0
votes
4
replies
1.5k
views
low coverage & BAF plots have three peaks
b-allele frequency low coverage WES human samples
6.1 years ago by lait ▴ 180
5
votes
1
reply
1.5k
views
identifying TP53 germline mutations which are also in tumor cells.
germline tp53 somatic varscan mutect
updated 6.2 years ago by ▴ 600 • written 6.2 years ago by ▴ 180
3
votes
5
replies
3.2k
views
how to distinguish mosaicism out of germline de novo mutations
de novo mutations mosaicism WES allele frequency
updated 6.2 years ago by ★ 1.6k • written 6.2 years ago by ▴ 180
1
vote
10
replies
2.4k
views
demultiplexing with same indices across different lanes
demultiplex multiplex index lane bcl2fastq
6.2 years ago by lait ▴ 180
0
votes
5
replies
1.6k
views
detecting mutations in cancer samples belonging to the same cancer type
cancer tumor wes pipeline ngs
updated 6.2 years ago by ▴ 550 • written 6.2 years ago by ▴ 180
0
votes
0
replies
1.4k
views
phasing variants produced by varscan
gatk phasing varscan variants trio analysis
6.4 years ago by lait ▴ 180
0
votes
0
replies
1.5k
views
does varscan2 trio mode perform joint genotyoing?
varscan variant germline trio joint genotyping
6.5 years ago by lait ▴ 180
2
votes
1
reply
1.7k
views
how are alleles represented in the sequenced reads?
NGS alleles SNP
updated 6.5 years ago by 13k • written 6.5 years ago by ▴ 180
1
vote
2
replies
2.1k
views
Is this a good workflow to find denovo mutations in trios?
denovo phasing whole exome sequencing trios
6.5 years ago by lait ▴ 180
14
votes
11
replies
3.4k
views
phasing variants to find de novos
phasing de novo NGS whole exome sequencing
updated 6.5 years ago by ★ 1.6k • written 6.5 years ago by ▴ 180
3
votes
2
replies
4.4k
views
mutations' effect on secondary structure
secondary structure mutation checmical properties
updated 7.3 years ago by ▴ 600 • written 8.1 years ago by ▴ 180
0
votes
3
replies
1.7k
views
strange output when trying to get consensus from a sorted bam file
bam consensus NGS samtools
7.7 years ago by lait ▴ 180
1
vote
7
replies
3.0k
views
get a consensus out of a Sorted bam file
bam sam NGS BWA
7.7 years ago by lait ▴ 180
0
votes
2
replies
1.8k
views
where to find Escherichia coli ST131 genome
NGS genome e.coli
updated 7.7 years ago by 141k • written 7.7 years ago by ▴ 180
1
vote
4
replies
2.1k
views
tools for gene assembly and quality check for sanger sequencing
sanger sequencing fastq gene Assembly
updated 7.9 years ago by ▴ 10 • written 7.9 years ago by ▴ 180
10
votes
6
replies
2.8k
views
which language to use for such a bioinformatics web services infrastructure?
web-services java
updated 13 months ago by 43k • written 8.9 years ago by ▴ 180
0
votes
3
replies
2.0k
views
consistency in sequence alignment?
alignment sequence
updated 15 months ago by 43k • written 8.9 years ago by ▴ 180
4
votes
2
replies
2.7k
views
objective function of the needleman-wunsch algorithm
sequence-alignment needleman-wunsch
updated 22 months ago by 43k • written 9.0 years ago by ▴ 180
9
votes
4
replies
4.7k
views
java script multiple sequence alignment viewer
sequence javascript alignment
updated 2.4 years ago by 43k • written 9.8 years ago by ▴ 180
4
votes
3
replies
7.1k
views
Difference Between Pfam And Prosite ?
protein
updated 2.5 years ago by 43k • written 10.2 years ago by ▴ 180
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