Thursday, 26 September 2013

The pick of the papers from ASHG 2013

The annual meeting of the American Society of Human Genetics takes place in Boston, Massachusetts, from 22nd to 26th October. The abstracts and posters are now up on the ASHG website and can be searched here. I have provided links below to the abstracts which were of particular interest to me as a genetic genealogist. The numbers before the titles are the abstract or poster numbers.


109. Harnessing Web 2.0 Social Networks for Genetic Epidemiology Studies with Millions of People.

112. Whole-genome sequence based association studies of complex traits: the UK10K project.

181. Patterns of IBD sharing inferred from whole genome sequences of 962 European Americans.

182. Reconstructing the Genetic Demography of the United States.

188. Fast and accurate pedigree-based imputation from sequenced data in a founder population.

192. Haplotype phasing across the full spectrum of relatedness.

268. Simultaneous estimation of population size changes and splits times from population level resequencing studies.

269. Inferring complex demographies from PSMC coalescent rate estimates: African substructure and the Out-of-Africa event.

270. Out of Africa, which way?

271. Insights into the genetic architecture of African genomes: the African Genome Variation Project.

274. Reconstructing the Population Genetic History of the Caribbean.

340. The Ashkenazi Jewish Genome.

341. Rare variant sharing reveals population histories.

347. Inferring ancient demography using whole-genome sequences from multiple individuals.

348.Inferring human population history and gene flow from multiple genome sequences.

349. A haplotype map derived from whole genome low-coverage sequencing of over 25,000 individuals.

350. Statistical estimation of haplotype sharing from unphased genotype data.

351. HapFABIA: Identification of very short segments of identity by descent (IBD) via biclustering.

352. A new method for genotype calling and phasing for the 1000 Genomes Project leads to improved downstream imputation accuracy.

404. Identification of Y chromosomes associated with risk for prostate cancer.

ASHG Posters

1911T. The visualization of probabilistic results from consumer genetic testing for ethnicity at AncestryDNA.

1861F. Computationally-efficient long-range phasing with very large datasets.
A poster from the AncestryDNA team.

1974T. Surveying European and West African Population Structure Using >2,300 Samples with Spatial Information.
A poster from the AncestryDNA team.

1944T. Geographic Population Structure (GPS) of worldwide human populations infers biogeographical origin down to home village.
A study using the Genograpic Project's Geno 2.0 GenoChip.

1958W. Y chromosomes in surname samples: insights into surname frequency and origin.
A study of 50 different Catalan surnames.

1963F. Evidence of social marginalisation leading to strong genetic differentiation among the Ari of Ethiopia.
A cautionary tale about the use of the clustering program ADMIXTURE.

1964W. Pinpointing the Indian origin and revealing the Caucasus chapter in the genetic ancestry of the European Roma.

2038F. The Iranian Genomes Project.

2043T. Resequencing of Australian Aboriginal mtDNA and Y chromosomes.
The authors report the finding of around 3000 new Y-SNPs.

2046T. Juxtapositions of short IBD blocks can cause biased estimation in inferences based on the length of IBD blocks.

2059F. Synthesizing genetic and genealogical data to trace historical waves of European and African immigration to the United States.
A poster from the AncestryDNA team.

2061T. The Saudi Arabian Genome Reveals a Two Step Out-of-Africa Migration.

2062F. The CARTaGENE Genomics Project : Population structure, local ancestry contributions and relatedness analysis of the French Canadian founder population.

2063W. Reconstruction of Ancestral Human Genomes from Genome-Wide DNA Matches.
A poster from the AncestryDNA team.

2100T. Mitochondrial Genome Database for Saudi Community.

2429W. Utility of the X chromosome pattern of inheritance: the identification of close relatives through direct-to-consumer (DTC) genetic testing.
A poster from ISOGG member Kathy Johnston.

2433W. Genetic privacy in the European Union - exploring the impact of the proposed Data Protection Regulations.

We can look forward to the results of some exciting research in the next year and an explosion of new autosomal DNA datasets. It is, however, somewhat disappointing to see that there is very little research that is now focused on the Y-chromosome and mitochondrial DNA. While the autosomal DNA studies are sequencing genomes at very high resolution the Y-DNA studies are still mostly using a small number of STR markers.


Kelly said...

Thanks for posting this and I agree with your comments. It seems that atDNA is the DNA de jour. The full Y sequencing and the Britains Chrom2 will hopefully spur more interest in the coming year.
Kelly Wheaton

Debbie Kennett said...

Thanks Kelly. There should be lots of results coming through from the Chromo 2 tests and the Full Genomes tests in the next month or so, and it will be interesting to see what new SNPs have been found. Autosomal DNA is now much cheaper than Y-DNA testing. We could do with similar price reductions for Y-DNA!