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BAYLOR COLLEGE OF MEDICINE CHILDRENS FOUNDATION MALAWI
LILONGWE
Unclaimed
Subcontracting experience
1 record from government sources. Past participation is not evidence of current teaming interest.
| Role | Agency | Description | Vehicle | Obligated | Action date | Period |
|---|---|---|---|---|---|---|
| Subcontractor | Department of Health and Human Services | SUBMIT GENOME SEQUENCING (BAM, CRAM AND VCF FILES) TO DBGAP UNDER SDY PARENT STUDY.
WHOLE GENOME SEQUENCING
SUBMISSION TYPE: DNA
SAMPLETYPE: GERMLINE
SPECIES: HOMO SAPIENS
LIBRARY PREP: TRUSEQ PCR-FREE, 450BP
NOVASEQ, 2X150
COVERAGE/READS: 40X
ANALYSIS: GRM (GERMLINE)
REQUIREMENTS
WGS TRUSEQ PCR-FREE SAMPLE REQUIREMENTS
CLIENT WILL PROVIDE THE FOLLOWING (“PURCHASER MATERIALS”):
- A MINIMUM OF 2.5ΜG OF UNAMPLIFIED, HIGH MOLECULAR WEIGHT, RNASE TREATED DNA IS REQUIRED
- SAMPLES SHOULD BE SUBMITTED IN A TOTAL VOLUME OF 50UL TO 100UL EB
- SAMPLES SHOULD HAVE ABSORBANCE VALUES OF OD260/280 1.7- 2.0 AND OD260/230 >2.0
- SAMPLES SHOULD BE QUANTIFIED BY PICOGREEN (OR EQUIVALENT)
- IF AVAILABLE, PLEASE SUBMIT AN AGAROSE GEL IMAGE TO VERIFY DNA QUALITY
ANALYSIS
WHOLE GENOME SEQUENCING ANALYSIS
- ALIGNMENT OF RAW READS TO GRCH38 USING BWA-MEM
- PICARD MARKDUPLICATES
- GATK BASE QUALITY SCORE RECALIBRATION
- VARIANT CALLING USING GATK HAPLOTYPECALLER
- SINGLE SAMPLE GENOTYPING
- ANNOTATIONS INCLUDE VARIANT EFFECT PREDICTIONS USING VEP; ALLELE FREQUENCIES FROM
GNOMAD;DBSNP; CONSERVATION SCORES FROM PHYLOP, PHASTCONS; DAMAGING EFFECT PREDICTIONS
FROM POLYPHEN 2, SIFT AND CLINICALLY RELEVANT INFORMATION FROM CLINVAR.
- STRUCTURAL VARIANT CALLING USING MANTA/CANVAS
DELIVERABLES
WHOLE GENOME SEQUENCING DELIVERABLES
- EXPECTED MEAN TARGET COVERAGE AS SPECIFIED IN THE SERVICE DESCRIPTION
- >75% OF BASES SEQUENCED WITH A QUALITY SCORE ABOVE Q30
- BAM FORMAT FILE CONTAINING ALL PASSED FILTER READS AND QUALITY SCORES
- RECALIBRATED VARIANT CALLS IN VCF FORMAT
- ANNOTATED VARIANT CALLS IN TAB DELIMITED TEXT FILE FORMAT
- PER-SAMPLE ANNOTATED UNFILTERED MANTA/CANVAS RESULTS IN VCF FORMAT, BGZIPPED AND TABIX INDEXED BAYLOR 24-QA-100131-12G-504200 Parent award context Parent award agency: Department of Health and Human Services · National Institutes of Health Parent award NAICS: 541715 Parent award performance state: MI Parent award description: SUDDEN DEATH IN THE YOUNG CASE REGISTRY (SDY) - DATA COORDINATING CENTER BIOSPECIMEN AND CONSENT ACTIVITIES View parent award on USAspending | — | $80,000 | Jul 16, 2025 | — – — |
Contract vehicles are shown only when present in the source record. Linked award numbers and vehicles open the authoritative record on USAspending.gov.