Generated Narrative: Procedure genomicstudyanalysis-trio2

Genomic Study Analysis Genome Build: GRCh38

Genomic Study Analysis Focus: Father Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 6789-11111 (use: temp, ))

Genomic Study Analysis Focus: Mother Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 0987-11111 (use: temp, ))

Genomic Study Analysis Title: Parental Sequence Variation Detection Using Next Generation Sequencing

Genomic Study Analysis Protocol Performed: Procedure Sequencing of entire coding region of gene (procedure)

Genomic Study Analysis Input

• file: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11118; status = current; docStatus = preliminary; description = A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
• type: BAM

Genomic Study Analysis Input

• file: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11125; status = current; docStatus = preliminary; description = A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
• type: BAM

Genomic Study Analysis Input

• file: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11132; status = current; docStatus = preliminary; description = A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
• type: BAM

Genomic Study Analysis Output

• file: DocumentReference: identifier = http://www.somesystemabc.net/identifiers/files#11150; status = current; docStatus = preliminary; description = A sample Document Reference instance representing a generic genomic file that may ber used as input or output of a genomic analysis pipeline.; securityLabel = Restricted
• type: VCF

instantiatesUri: https://pubmed.ncbi.nlm.nih.gov/33927380/

status: Completed

category: Laboratory

subject: Child Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 1234-11111 (use: temp, ))

performed: 2023-10-01