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2
votes
3
replies
1.0k
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Use of gVCF by clinical sequencing labs
gvcf
updated 11 months ago by 23k • written 11 months ago by ▴ 100
0
votes
0
replies
4.3k
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Comment: Comment: Tabix '[E::get_intv] Failed to parse TBX_VCF' error
3.2 years ago by bdolin ▴ 100
3
votes
7
replies
4.3k
views
Tabix '[E::get_intv] Failed to parse TBX_VCF' error
vcf tabix
updated 3.2 years ago by 3.1k • written 3.2 years ago by ▴ 100
0
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0
replies
4.3k
views
Comment: Comment: Tabix '[E::get_intv] Failed to parse TBX_VCF' error
3.2 years ago by bdolin ▴ 100
0
votes
0
replies
1.8k
views
Comment: Comment: How to deal with conflicting INFO field names in SnpSift?
3.2 years ago by bdolin ▴ 100
0
votes
1
reply
1.8k
views
Comment: Comment: How to deal with conflicting INFO field names in SnpSift?
3.2 years ago by bdolin ▴ 100
0
votes
1
reply
1.8k
views
Comment: Comment: How to deal with conflicting INFO field names in SnpSift?
3.2 years ago by bdolin ▴ 100
0
votes
6
replies
1.8k
views
How to deal with conflicting INFO field names in SnpSift?
SnpSift snpEff
3.2 years ago by bdolin ▴ 100
0
votes
3
replies
1.9k
views
Use of ISCN in public knowledgebases
sequence
updated 4.5 years ago by • 0 • written 8.3 years ago by ▴ 100
0
votes
0
replies
2.0k
views
Comment: C: VCF to FHIR Converter
5.0 years ago by bdolin ▴ 100
0
votes
1
reply
4.3k
views
Comment: C: simple polygenic risk example
5.2 years ago by bdolin ▴ 100
0
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0
replies
2.0k
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Comment: C: VCF to FHIR Converter
5.4 years ago by bdolin ▴ 100
0
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0
replies
5.6k
views
Comment: C: Skip orientation RF
6.2 years ago by bdolin ▴ 100
0
votes
2
replies
2.0k
views
Tool: VCF to FHIR Converter
sequencing
updated 2.3 years ago by 45k • written 6.5 years ago by ▴ 100
0
votes
0
replies
3.5k
views
Answer: A: Create a File format to store Variant
6.8 years ago by bdolin ▴ 100
0
votes
0
replies
1.3k
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Is there SAM/VCF-to-FHIR translation software?
sequencing
7.3 years ago by bdolin ▴ 100
0
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1
reply
7.0k
views
Answer: A: How can I convert VCF to HGVS format?
7.4 years ago by bdolin ▴ 100
0
votes
1
reply
4.7k
views
Comment: C: Help understanding CHROM and POS fields in VCF
7.7 years ago by bdolin ▴ 100
1
vote
6
replies
4.7k
views
Help understanding CHROM and POS fields in VCF
genome sequence
updated 7.7 years ago by 16k • written 7.7 years ago by ▴ 100
0
votes
0
replies
4.7k
views
Comment: C: Help understanding CHROM and POS fields in VCF
7.7 years ago by bdolin ▴ 100
1
vote
0
replies
1.7k
views
Tutorial: Fall 2017 Introduction to Human Genomics for Clinical Informaticists
genome
updated 2.4 years ago by 45k • written 7.7 years ago by ▴ 100
0
votes
0
replies
2.6k
views
Comment: C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
7.8 years ago by bdolin ▴ 100
0
votes
5
replies
2.6k
views
Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
next-gen sequence
updated 7.8 years ago by • 0 • written 7.8 years ago by ▴ 100
0
votes
1
reply
2.6k
views
Comment: C: Help understanding PrecisionFDA and GA4GH "TRUTH.TP" and "QUERY.TP" metrics
updated 7.8 years ago by 89k • written 7.8 years ago by ▴ 100
0
votes
0
replies
2.0k
views
Answer: A: HGVS for F8 Intron 22 inversion (revisited)
8.0 years ago by bdolin ▴ 100
0
votes
2
replies
2.0k
views
HGVS for F8 Intron 22 inversion (revisited)
genome gene
8.0 years ago by bdolin ▴ 100
0
votes
0
replies
2.0k
views
Comment: C: HGVS for F8 Intron 22 inversion (revisited)
8.0 years ago by bdolin ▴ 100
0
votes
0
replies
2.4k
views
Comment: C: Introduction to Human Genomics for Clinical Informaticists
8.1 years ago by bdolin ▴ 100
0
votes
0
replies
2.4k
views
Comment: C: Introduction to Human Genomics for Clinical Informaticists
8.1 years ago by bdolin ▴ 100
7
votes
2
replies
2.4k
views
Tutorial: Introduction to Human Genomics for Clinical Informaticists
genome
updated 2.4 years ago by 45k • written 8.1 years ago by ▴ 100
6
votes
7
replies
4.1k
views
How do we measure and report the quality of next generation sequencing?
next-gen
updated 8.1 years ago by ★ 2.5k • written 8.2 years ago by ▴ 100
0
votes
0
replies
4.1k
views
Comment: C: How do we measure and report the quality of next generation sequencing?
8.1 years ago by bdolin ▴ 100
1
vote
1
reply
4.1k
views
Answer: A: How do we measure and report the quality of next generation sequencing?
8.1 years ago by bdolin ▴ 100
0
votes
0
replies
998
views
Reinterpreting variant results in an EHR
sequencing
8.2 years ago by bdolin ▴ 100
0
votes
1
reply
1.0k
views
Barriers to a clinical "Test Once, Analyze Many" molecular DNA strategy.
next-gen
8.3 years ago by bdolin ▴ 100
0
votes
0
replies
1.9k
views
Answer: A: Use of ISCN in public knowledgebases
8.3 years ago by bdolin ▴ 100
0
votes
2
replies
3.5k
views
Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
8.4 years ago by bdolin ▴ 100
0
votes
9
replies
3.5k
views
What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
genome gene
8.4 years ago by bdolin ▴ 100
0
votes
0
replies
3.5k
views
Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
8.4 years ago by bdolin ▴ 100
0
votes
0
replies
3.5k
views
Answer: A: What is the HGVS notation for the Hemophilia A intron 22 inversion mutation?
8.4 years ago by bdolin ▴ 100
0
votes
1
reply
2.4k
views
ClinVar vs. dbSNP/dbVAR
SNP
8.4 years ago by bdolin ▴ 100
0
votes
0
replies
2.4k
views
Answer: A: ClinVar vs. dbSNP/dbVAR
8.4 years ago by bdolin ▴ 100
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