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2.6k
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Comment:
Comment: Tabix '[E::get_intv] Failed to parse TBX_VCF' error
22 months ago by
bdolin
▴ 90
3
votes
7
replies
2.6k
views
Tabix '[E::get_intv] Failed to parse TBX_VCF' error
vcf
tabix
updated 21 months ago by
John Marshall
3.0k • written 22 months ago by
bdolin
▴ 90
0
votes
0
replies
2.6k
views
Comment:
Comment: Tabix '[E::get_intv] Failed to parse TBX_VCF' error
22 months ago by
bdolin
▴ 90
0
votes
0
replies
1.0k
views
Comment:
Comment: How to deal with conflicting INFO field names in SnpSift?
22 months ago by
bdolin
▴ 90
0
votes
1
reply
1.0k
views
Comment:
Comment: How to deal with conflicting INFO field names in SnpSift?
22 months ago by
bdolin
▴ 90
0
votes
1
reply
1.0k
views
Comment:
Comment: How to deal with conflicting INFO field names in SnpSift?
22 months ago by
bdolin
▴ 90
0
votes
6
replies
1.0k
views
How to deal with conflicting INFO field names in SnpSift?
SnpSift
snpEff
22 months ago by
bdolin
▴ 90
0
votes
3
replies
1.4k
views
Use of ISCN in public knowledgebases
sequence
updated 3.1 years ago by
Jng
• 0 • written 6.9 years ago by
bdolin
▴ 90
0
votes
0
replies
1.6k
views
Comment:
C: VCF to FHIR Converter
3.6 years ago by
bdolin
▴ 90
0
votes
1
reply
3.8k
views
Comment:
C: simple polygenic risk example
3.8 years ago by
bdolin
▴ 90
0
votes
0
replies
1.6k
views
Comment:
C: VCF to FHIR Converter
4.0 years ago by
bdolin
▴ 90
0
votes
0
replies
4.9k
views
Comment:
C: Skip orientation RF
4.8 years ago by
bdolin
▴ 90
0
votes
2
replies
1.6k
views
Tool:
VCF to FHIR Converter
sequencing
updated 10 months ago by
Ram
43k • written 5.1 years ago by
bdolin
▴ 90
0
votes
0
replies
2.4k
views
Answer:
A: Create a File format to store Variant
5.4 years ago by
bdolin
▴ 90
0
votes
0
replies
1.1k
views
Is there SAM/VCF-to-FHIR translation software?
sequencing
5.9 years ago by
bdolin
▴ 90
0
votes
1
reply
5.3k
views
Answer:
A: How can I convert VCF to HGVS format?
6.0 years ago by
bdolin
▴ 90
0
votes
1
reply
3.8k
views
Comment:
C: Help understanding CHROM and POS fields in VCF
6.3 years ago by
bdolin
▴ 90
1
vote
6
replies
3.8k
views
Help understanding CHROM and POS fields in VCF
genome
sequence
updated 6.3 years ago by
finswimmer
16k • written 6.3 years ago by
bdolin
▴ 90
0
votes
0
replies
3.8k
views
Comment:
C: Help understanding CHROM and POS fields in VCF
6.3 years ago by
bdolin
▴ 90
1
vote
0
replies
1.4k
views
Tutorial:
Fall 2017 Introduction to Human Genomics for Clinical Informaticists
genome
updated 11 months ago by
Ram
43k • written 6.3 years ago by
bdolin
▴ 90
0
votes
0
replies
1.9k
views
Comment:
C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
6.4 years ago by
bdolin
▴ 90
0
votes
5
replies
1.9k
views
Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
next-gen
sequence
updated 6.4 years ago by
jzook
• 0 • written 6.4 years ago by
bdolin
▴ 90
0
votes
1
reply
1.9k
views
Comment:
C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
updated 6.4 years ago by
Kevin Blighe
87k • written 6.4 years ago by
bdolin
▴ 90
0
votes
0
replies
1.5k
views
Answer:
A: HGVS for F8 Intron 22 inversion (revisited)
6.5 years ago by
bdolin
▴ 90
0
votes
2
replies
1.5k
views
HGVS for F8 Intron 22 inversion (revisited)
genome
gene
6.5 years ago by
bdolin
▴ 90
0
votes
0
replies
1.5k
views
Comment:
C: HGVS for F8 Intron 22 inversion (revisited)
6.5 years ago by
bdolin
▴ 90
0
votes
0
replies
1.9k
views
Comment:
C: Introduction to Human Genomics for Clinical Informaticists
6.6 years ago by
bdolin
▴ 90
0
votes
0
replies
1.9k
views
Comment:
C: Introduction to Human Genomics for Clinical Informaticists
6.7 years ago by
bdolin
▴ 90
7
votes
2
replies
1.9k
views
Tutorial:
Introduction to Human Genomics for Clinical Informaticists
genome
updated 11 months ago by
Ram
43k • written 6.7 years ago by
bdolin
▴ 90
6
votes
7
replies
2.8k
views
How do we measure and report the quality of next generation sequencing?
next-gen
updated 6.7 years ago by
chen
★ 2.5k • written 6.8 years ago by
bdolin
▴ 90
0
votes
0
replies
2.8k
views
Comment:
C: How do we measure and report the quality of next generation sequencing?
6.7 years ago by
bdolin
▴ 90
1
vote
1
reply
2.8k
views
Answer:
A: How do we measure and report the quality of next generation sequencing?
6.7 years ago by
bdolin
▴ 90
0
votes
0
replies
859
views
Reinterpreting variant results in an EHR
sequencing
6.8 years ago by
bdolin
▴ 90
0
votes
1
reply
844
views
Barriers to a clinical "Test Once, Analyze Many" molecular DNA strategy.
next-gen
6.9 years ago by
bdolin
▴ 90
0
votes
0
replies
1.4k
views
Answer:
A: Use of ISCN in public knowledgebases
6.9 years ago by
bdolin
▴ 90
0
votes
2
replies
2.7k
views
Answer:
A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
6.9 years ago by
bdolin
▴ 90
0
votes
9
replies
2.7k
views
What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
genome
gene
6.9 years ago by
bdolin
▴ 90
0
votes
0
replies
2.7k
views
Answer:
A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
7.0 years ago by
bdolin
▴ 90
0
votes
0
replies
2.7k
views
Answer:
A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
7.0 years ago by
bdolin
▴ 90
0
votes
1
reply
2.1k
views
ClinVar vs. dbSNP/dbVAR
SNP
7.0 years ago by
bdolin
▴ 90
0
votes
0
replies
2.1k
views
Answer:
A: ClinVar vs. dbSNP/dbVAR
7.0 years ago by
bdolin
▴ 90
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