Biology subjects

Assaf Gordon

Publications and source records attributed to Assaf Gordon.

3 recordsLinked to original sources

bioRxiv2016

Genome-wide profiling of heritable and de novo STR variations

Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, STRs have proven problematic to genotype from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping, haplotyping, and phasing STRs from whole genome sequencing data and report a genome-wide analysis and validation of de novo STR mutations.

Genomics↗

bioRxiv2016

DNA Compass: a secure, client-side site for navigating personal genetic information

MotivationMillions of individuals have access to raw genomic data using direct-to-consumer companies. The advent of large-scale sequencing projects, such as the Precision Medicine Initiative, will further increase the number of individuals with access to their own genomic information. However, querying genomic data requires a computer terminal - an impediment for the general public.\n\nResultsDNA Compass is a website designed to empower the public by enabling simple navigation of personal genomic data. Users can query the status of their genomic variants for over 400 conditions or tens of millions of documented SNPs. DNA Compass presents the relevant genotypes of the user side-by-side with explanatory scientific resources. The genotypes data never leaves the users computer, a feature that provides improved security and performance. Nearly 2500 unique users have used our tool, mainly from the general genetic genealogy community, demonstrating its utility.\n\nAvailabilityDNA Compass is freely available on https://compass.dna.land.\n\nContactyaniv@cs.columbia.edu

Genomics↗

bioRxiv2016

Democratizing DNA Fingerprinting

We report a rapid, inexpensive, and portable strategy to re-identify human DNA using the MinION, a miniature sequencing sensor by Oxford Nanopore Technologies. Our strategy requires only 10-30 minutes of MinION sequencing, works with low input DNA, and enables familial searches. We also show that it can re-identify individuals from Direct-to-Consumer genomic datasets that are publicly available. We discuss potential forensic applications as well as the legal and ethical implications of a democratized DNA fingerprinting strategy available to the public.

Genomics↗