Fast STR allele identification with STRait Razor 3.0

STRait Razor v3.0 performs ∼660 x faster allele identification than its previous version (v2s), a speedup that is largely due to a novel indexing strategy used to perform “fuzzy” (approximate) string matching of anchor sequences. Written in a portable compiled language, C + +, STRait Razor v3.0 functions on all major operating systems including Microsoft Windows, and it has cross-platform multithreading support.

2017-06-07T18:56:50+00:00 June 6th, 2017|

Paternity testing under the cloak of recreational genetics

Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called ‘recreational genetics’, but...

2017-04-14T20:10:14+00:00 April 14th, 2017|

A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data

We developed a new IBD segment detection program, FISHR (Find IBD Shared Haplotypes Rapidly), in an attempt to accurately detect IBD segments and to better estimate their endpoints using an algorithm that is fast enough to be deployed on very large whole-genome SNP data sets.

2017-02-10T14:40:37+00:00 February 10th, 2017|

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing.

2017-02-10T14:04:10+00:00 February 10th, 2017|

Tracing the peopling of the world through genomics

Advances in the sequencing and the analysis of the genomes of both modern and ancient peoples have facilitated a number of breakthroughs in our understanding of human evolutionary history... Our interpretation of the evolutionary history and adaptation of humans is being transformed by analyses of these new genomic data.

2017-01-26T03:52:10+00:00 January 26th, 2017|

The history of the Y chromosome in man

Studies of the Y chromosome over the past few decades have opened a window into the history of our species, through the reconstruction and exploitation of a patrilineal (Y-genealogical) tree based on several hundred single-nucleotide variants (SNVs). A new study validates, refines and extends this tree by incorporating >65,000 Y-linked variants identified in 1,244 men representing worldwide diversity.

2017-01-01T11:16:09+00:00 January 1st, 2017|

Different kinds of genetic markers permit inference of Paleolithic and Neolithic expansions in humans

For a large majority of replicates for each scenario tested, microsatellite data allow only detecting the recent expansion event in that case, whereas sequence data allow only detecting the ancient expansion.

2016-12-27T09:05:30+00:00 December 27th, 2016|

Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations

Here, we use genotype data from 480 samples from Chad, the Near East, and southern Europe, as well as whole-genome sequencing from 19 of them, to show that many populations today derive their genomes from ancient African-Eurasian admixtures.

2016-11-25T10:44:28+00:00 November 25th, 2016|

Carriers of human mitochondrial DNA macrohaplogroup M colonized India from southeastern Asia

Based also on mtDNA phylogenetic and phylogeographic grounds, some authors have proposed the coeval existence of a northern route across the Levant that brought mtDNA macrohaplogroup N to Australia. To contrast both hypothesis, here we reanalyzed the phylogeography and respective ages of mtDNA haplogroups belonging to macrohaplogroup M in different regions of Eurasia and Australasia.

2016-11-15T09:24:59+00:00 November 15th, 2016|