Andrew
A glowing review for Sequencing.com support
I wrote this as a reply in Reddit and pasted it here. It covers my experience with other companies as well which puts the positive comments I have about Sequencing.com in context . I went with Nebula labs for 30x Whole Genome Sequencing for $299 over the cheaper providers like Dante (who had a $100 genome black Friday deal). Nebula provided me with 6 files total for 30x WGS (2 FASTQ, CRAM, CRAI, VCF, TBI). Each file format is different and there is quite a lot to learn beginning cold, but their tutorials are good and most service providers are working out file conversion issues behind the scenes and improving their services rapidly. In my case, I had old Ancetry.com data that I'd run through Promethease long ago. That gave me about 13k SNPs. With my new 100% WGS data on hand, I wished to give Promethease another try since it has 110,000+ SNPs, My old Ancestry data only picked up 13kof them, I was hoping my WGS data report would provide far more, upwards of 50k+ to 90k SNPs. But what file(s) to upload? Did I need to convert them? I heard others having similar problem uploadings their VCF files to Promethease. Some on REddit said to use the Clinvar convesion of the VCF. Others said to use the cram file. Yet another suggested the EvePremium app on Sequencing.com but in the wrong/nonoptimal way. And the app costs $19 per use. Eventually I received support directly from Sequencing.com and they were extremely helpful. Their EvePremium app can convert among most file types and could handle the Nebula 2 FASTQ files conversion into a single gVCF file that I needed for Prometease. Seqencing.com (Hannah) was terrific as patiently explained how to do this. My initial attempts failed due to a technical problem. They issued refunds for the failed attempts. They were responsive, intelligent, forthright, and and had their techs correct an internal error with my file / their code and kept me updated on the process. Alas, my final output gVCF was successful and increased my SNP reads from Promethease from 13k to only *wahwah* 16k. Not the 90k I was hoping for. Disappointing, but this was no fault of Sequencing.com. Apparently this may be a general problem with Promethease as they do not seem to be staying up to date and moving forward in pace with other companies since being bought by Heritage. They never responded to my support requests. Nebula Genomics I am very happy with. Their support and services are top tier as well. I get the sense they are maxed out and expanding quickly, so answers to my service ticket requests were generally timely and brief yet fair and sufficient. Nebula has a great whole genome browser freeware called IGV that is worth learning. They maintain a blog with constantly expanding library of study-backed personalized interpretations of your genome, an option for 100x, and more. I am glad to upgrade to a lifetime membership. Sequencing.com had a number of interesting apps for interpretation of medical health aspects. They are pay al a carte, which can become very expensive, but they are kind and run coupons often. I am 1 month into this and those are my experiences thus far. There are other services popping up. I was not impressed with GenoPalate.com as they were not prepared to read my Nebula data formats at all. Furthermore Sequencing.com has an app that provides similar information for a reasonable price. My take so far is Personal WGS is a exploding field on the precipice of great clinical and personal practical value, but not quite there yet on the consumer level. It takes learning curve and frustration getting involved in it now, but that will change rapidly in a few short years I believe. In some ways this personal WGS field is in a growth stage similar to personal computers back in the pioneering 80s days of Apple and IBM before major players Like Gates and Jobs emerged and dominated the market largely by thinking ahead and creating UI / UX for the masses. I look forward to witnessing the evolution.
Response from Sequencing.comFeb 16, 2021
Hi Andrew - Thank you for your review!



