Registered nurse (operating room) for over 27 years, "semi-retired". PGP participant, tested by at least a dozen retail and/or non-profit genomics testing companies/institutions over the past ten years, and 12 members of my immediate family (spanning four generations) tested by various retail genomics testing companies, & whole exomes (x2) for immediate family. Great interest in archaeology (particularly, forensic genomics) and human origins, but primary interests shifting to molecular genetics.
Sporadic ALS,LOAD (APOE-e2/e3), PD, and IGE, in immediate and extended family, no causal variants identified to date, May 2019. Our family is very open to working with researchers attempting to decipher these devastating disorders. sALS trio, comprised of PGP whole genome (VCF only), and two whole exomes as noted below. Please contact me directly (firstname.lastname@example.org) if you wish to use whole exome data files for additional family members. (Platform: Illumina HiSeq; Enrichment: Nextera Rapid Capture Expanded Exome Kit - FC-140-1006, Average 70X Coverage, BAM, FASTQ and VCF files available). Five autosomal recessive variants (heterozygous only) identified to date, including HEXA (R170W) We are currently focused on searching for clinically significant de novo mutations and autosomal recessive compound heterozygous variants.
I have lately become increasingly aware of the need to use a variety of technologies to get an accurate genome assessment, e.g, Next Generation Sequencing, Long Read Sequencing (Pac-Bio), genotyping, Sanger Sequencing (for confirmation of variants), HLA imputation from NGS & Pac-Bio, NanoPore MINION long read sequencing, virtual karyotyping, etc., and I continue to explore any affordable avenues to access those technologies. May 2019 update - BioNano Genomics relatively new Saphyr structural variant analysis is of great interest at present. This technology appears to be emerging as a leading contender for structural variant analyisis, and I am actively engaged in searching this sequencing service from any lab that has access to the technology.
American Gut Project
Harvard Personal Genome Project