Axeq EXOME ORDER SHEET Please complete customer information and mark only one that applies to your order in the order information. CUSTOMER INFORMATION ORDER INFORMATION Children’s Internal Use Only For Axeq Use Only Order Date: Order Date: Primary Contact: Client Name: Institution/ Department: Institution/ Department: Molecular Genetics Core/Genetics Address: Address: 3 Blackfan Circle, CLS 16030.23 Phone: Phone: E-mail for Data Return: E-mail: Boston Children’s Hospital (617)355-3382 nextgen@iddrc.org AXEQ BILLING INFORMATION CHILDRENS BILLING INFORMATION Fund or PO Number Purchase Order Number: Billing Address: Billing Address: Account Manager Name: Account Manager Name: Account Manager E-mail: Account Manager E-mail: 3 Blackfan Circle, CLS 15th Floor nextgen@iddrc.org SHIPPING ADDRESS AXEQ TECHNOLOGIES MACROGEN INC. (ATTENTION: RYAN JEONG) TEL +82-2-2113-7089 FAX +82-2-2113-7919 908 WORLD MERIDIAN VENTURE CENTER #60-24, GASAN-DONG, GEUMCHUN-GU, SEOUL, SOUTH KOREA 153781 EMAIL: NGS@MACROGEN.COM ORDER INFORMATION Species : Application : Whole Exome Sequencing Whole Genome Sequencing Enrichment system : Sequencing Platform : Illumina HiSeq2000 Sequencing Method : Paired End Sequencing Median Depth : Analysis : Number of Samples : Sample Type : (Read length 100bp) SAMPLE INFORMATION *Sample Concentration must be assessed by intercalating dye. Sample Information Sample Name Used For Data Return Label Secondary Label Quality Information Concentration (ng/ul) Volume (ul) Comments ※ Please provide gel image(s) of DNA Sample(s). ※※Please provide additional sheets if more samples are included in this table Comment (Please provide any comments or instructions below): Rhetorical Definitions and Descriptions of Terms A) SPECIES: Species is specific to only human sample B) APPLICATION: Application specifies the purpose of using Axeq service for which human whole exome sequencing is provided. C) CAPTURING SYSTEM: Capturing system specifies a type of platform that will be used in exome capture in the Axeq service. D) SEQUENCING PLATFORM: Sequencing platform specifies a type of platform that will be used in sequencing captured library in the Axeq service. E) SEQUENCING METHOD: Sequencing method specifies a type of methodology that will be used in library construction in the Axeq service. F) ANALYSIS: Analysis specifies a type of in-silico analysis work that will be done from Macrogen Inc., for which Basic, Standard, Advanced, and Premium analysis service is provided and CLIENT specifies what analysis needs to be taken. i) Basic analysis: Basic analysis includes only raw data (fastq flies). ii) Standard analysis: Standard analysis includes Aligned data and Variant report. (01) Aligned data include BCL, BAM, SAM (sequence + quality + alignment). (02) Variant report includes Variant list (SNV/InDel). iii) Advanced analysis: Advanced analysis includes SNV annotation (Gene, dbSNP, AA change, effect prediction). iv) Premium analysis: Premium analysis includes Group analysis. G) SAMPLE QUATITY: Sample quantity specifies the number of samples that Client provides for the Axeq Service. i) SAMPLE TYPE: Sample type specifies a type of sample which must be genomic DNA. ii) SAMPLE NAME: Sample name specifies the name of sample(s) that Client provides. iii) TUBE LABEL: Tube label specifies actual labeling on the tube(s) that Client ships to Macrogen Inc. H) SAMPLE QC: Sample QC stands for sample quality check that must be done and provided from Client prior to shipping the samples to Macrogen Inc. or along with the shipping. (a) CONC.: Conc. stands for concentration of the sample in a unit of ug/ul that will be provided from Client. (b) VOLUME: Volume specifies the amount of sample in a unit of ul. (c) IN(TE●DW): IN(TE●DW) stands for a type of Buffer in which the DNA is and should be either TE buffer or Distilled Water. (d) O.D.260/280: O.D.260/280 specifies purity of the DNA sample(s). I) SAMPLE QUALITY CONTROL: Sample quality check is done by assessing sample concentration, sample volume, and purity. Any failure of these criteria will require sample re-submission and affect the rest of the order schedule. Sample QC report will be provided to Client to receive confirmation. J) CAPTURING QUALITY CONTROL: Captured DNA quality will be assessed and provided in a report format to Client to receive confirmation. K) LIBRARY QUALITY CONTROL: Library quality will be assed and provided in a report format to Client to receive confirmation. L) SEQUENCE QUALITY CONTROL: A number of parameters will be used to assess the sequence quality as following: (01) Base calling (phred score: average Q20) (02) Quality trimming criteria (03) Pass filter criteria