@article {19,
	title = {Genome-wide profiling of heritable and de novo STR variations.},
	journal = {Nat Methods},
	volume = {14},
	year = {2017},
	month = {2017 Jun},
	pages = {590-592},
	abstract = {<p>Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases, population genetics applications, and forensic casework. However, it has proven problematic to genotype STRs from high-throughput sequencing data. Here, we describe HipSTR, a novel haplotype-based method for robustly genotyping and phasing STRs from Illumina sequencing data, and we report a genome-wide analysis and validation of de novo STR mutations. HipSTR is freely available at https://hipstr-tool.github.io/HipSTR.</p>},
	keywords = {Algorithms, Chromosome Mapping, DNA Fingerprinting, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Microsatellite Repeats, Sequence Alignment, Sequence Analysis, DNA, Software},
	issn = {1548-7105},
	doi = {10.1038/nmeth.4267},
	author = {Willems, Thomas and Zielinski, Dina and Yuan, Jie and Gordon, Assaf and Gymrek, Melissa and Erlich, Yaniv}
}
@article {27,
	title = {Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.},
	journal = {Cell},
	volume = {170},
	year = {2017},
	month = {2017 Jun 29},
	pages = {199-212.e20},
	abstract = {<p>Type 2 diabetes (T2D) affects Latinos at twice the~rate~seen in populations of European descent. We~recently identified a risk haplotype spanning SLC16A11 that explains \~{}20\% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at~this locus. To gain insight into how SLC16A11 disruption impacts T2D risk, we demonstrate that SLC16A11 is a proton-coupled monocarboxylate transporter and that genetic perturbation of SLC16A11 induces changes in fatty acid and lipid metabolism that are associated with increased T2D risk. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D. VIDEO ABSTRACT.</p>},
	keywords = {Basigin, Cell Membrane, Chromosomes, Human, Pair 17, Diabetes Mellitus, Type 2, Gene Knockdown Techniques, Haplotypes, Hepatocytes, Heterozygote, Histone Code, Humans, Liver, Models, Molecular, Monocarboxylic Acid Transporters},
	issn = {1097-4172},
	doi = {10.1016/j.cell.2017.06.011},
	author = {Rusu, Victor and Hoch, Eitan and Mercader, Josep M and Tenen, Danielle E and Gymrek, Melissa and Hartigan, Christina R and DeRan, Michael and von Grotthuss, Marcin and Fontanillas, Pierre and Spooner, Alexandra and Guzman, Gaelen and Deik, Amy A and Pierce, Kerry A and Dennis, Courtney and Clish, Clary B and Carr, Steven A and Wagner, Bridget K and Schenone, Monica and Ng, Maggie C Y and Chen, Brian H and Centeno-Cruz, Federico and Zerrweck, Carlos and Orozco, Lorena and Altshuler, David M and Schreiber, Stuart L and Florez, Jose C and Jacobs, Suzanne B R and Lander, Eric S}
}
