2016 Biology of Genomes Accepted Talks and Posters Announced

The Biology of Genomes 2016, one of the annual genomics conferences organized at and by Cold Spring Harbor Lab, NY just announced the list of accepted talks and posters. The BOG 2016, starts on 10th May and ends on 14th May 2016, has over 45 talks and over 290 posters on all things genomics. Here is the list of all the talk titles at this years conference.

  1. Albert, F.W. Trans-regulatory architecture of genetic transcriptome variation from 1,000 yeast individuals
  2. Asgari, S. Loss-of-function mutations in IFIH1 predispose to severe viral respiratory infections in children
  3. Barrett, J.C. Genetic connections between schizophrenia, autism and neurodevelopment
  4. Battle, A. Predicting the regulatory impact of rare non-coding variation
  5. Blekhman, R. Prediction of colorectal tumor mutations using the gut microbiome
  6. Brown, C.B. Genetics of local gene expression across 44 human cell types
  7. Burga, A. A genetic signature of flightlessness evolution in the Galapagos cormorant (Phalacrocorax harrisi) revealed by predictive genomics
  8. Carninci, P. SINEUPs, a new class of translation regulatory RNAs—From function to future gene therapy
  9. Chen, N. Genomic patterns of selection through time in a wild pedigreed population
  10. Cowley, M.J. Clinically accredited WGS as a first line diagnostic test for patients with Mendelian disorders
  11. Cummings, B.B. Improving genetic diagnoses in Mendelian disease with whole genome and RNA sequencing
  12. Demmitt, B.A. The heritability of the oral microbiome
  13. Elde, N. The generosity of selfish genes in the evolution of immune defenses
  14. Elvers, I. Dissecting the influence of genomic background in tumor mutations
  15. Field, Y. Detecting 2,000 years of human genetic adaptation
  16. Gaffney, D. Mutation and selection during induced pluripotent stem cell reprogramming
  17. Gardner, E.J. The Mobile Element Locator Tool (MELT)—Population-scale mobile element discovery and biology
  18. Garvin, T. Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma
  19. Gifford, D.K. High-throughput mapping of regulatory DNA
  20. Howell, K.J. Using multi-omics data to investigate inflammatory bowel disease in the intestinal epithelium
  21. Iotchkova, V. Comprehensive fine mapping and functional interpretation of human traits
  22. Jostins, L. Identifying substructure in genetic risk sharing between diseases
  23. Karczewski, K. Breaking the infinite sites model—Widespread mutational recurrence in exome sequence data from over 60,000 individuals
  24. Karlsson, E.K. Shared genetics of obsessive compulsive disorder in dogs and humans
  25. Kim-Hellmuth, S. Genetic basis of innate immunity in human monocytes
  26. Li, Y. RNA splicing is a primary link between genetic variation and disease
  27. Lindsay, S.J. Striking differences in patterns of germline mutation in mice and humans
  28. Malek, J.A. Species genome sequencing of the endangered Spix’s macaw
  29. Mardis, E.R. Genome-guided design of personalized cancer vaccines
  30. Moorjani, P. Variation in the molecular clock of primates
  31. Orlando, L. Evolutionary genomics of the horse domestication process
  32. Osterwalder, M. CRISPR deletion screen reveals widespread functional redundancy of mammalian in vivo enhancers
  33. Pääbo, S. Population genomics of Upper Paleolithic Europe
  34. Polfus, L.M. Coupling genomic sequencing analyses with genome editing to reveal a role for alternative GFI1B splice variants in human hematopoiesis
  35. Ramachandran, S. Transcriptional regulators compete with nucleosomes post-replication
  36. Rao, S.S. Chromatin extrusion explains key features of loop and domain formation in wild-type and engineered genomes
  37. Ruderfer, D. Complex genetic overlap between schizophrenia risk and antipsychotic response
  38. Sanjana, N.E. High-throughput, unbiased CRISPR mutagenesis of the human noncoding genome
  39. Segal, E. Unraveling principles of gene regulation using thousands of designed regulatory sequences
  40. Segurel, L. Influence of diet, parasitism and host genetics on the biodiversity of the human gut microbiota in rural populations from Cameroon
  41. Sella, G. Quantifying selection and demographic effects on quantitative genetic variation—An application to human height
  42. Snyder, M. Deciphering the non-coding regulatory landscape in autism spectrum disorders
  43. Tewhey, R. Direct identification of hundreds of expression-modulating variants using a multiplexed reporter assay
  44. Tung, J. How social status changes the immune system—Experimental evidence from rhesus macaques
  45. Walczak, A. Diversity of immune receptor repertoires
  46. Yu, B. Whole genome sequence variants influence multiple amino acids levels

Here are the accepted poster titles with the first author name.

  1. byzov, A. Somatic mosaic variations in healthy skin fibroblasts
  2. Adhikari, B. Whole genome sequencing and analysis of aflatoxin-producing and atoxigenic Aspergillus flavus genotypes
  3. Afik, S.D. Uncovering the regulatory landscape of dendritic cells response to pathogens
  4. Armean, I. Functional validation of human protein-truncating genetic variants
  5. Athanasiadis, G. Inference of local ancestry based on admixture graphs
  6. Ballouz, S. Assessment of functional convergence across study designs in autism
  7. Barber, G. New UCSC Genome Browser Views—Exon-only, gene-only, alternate haplotypes, and custom regions
  8. Baris, T.Z. Adaptive epistasis—Nuclear-mitochondrial interactions select for different genotypes
  9. Barreiro, L.B. Road map of the genetic and evolutionary forces driving population differences in immune responses to infection
  10. Bartanus, J.R. Functional prioritization of structural variants through a combinatorial approach for identifying loci under purifying selection
  11. Bar-Yaacov, D. Protein recoding by RNA editing in bacteria
  12. Batzoglou, S. Unveiling subpopulation structures in large-scale single-cell RNA-seq experiments with a novel similarity-learning framework
  13. Baudry, L. A multi-scale, probability-based approach to solving poorly assembled genomes using chromosome contact data
  14. Bertranpetit, J. Natural selection in functional pathways—An approach to evolutionary systems biology
  15. Bhérer, C. The genomic and epigenomic properties of sexual dimorphism in human meiotic recombination
  16. Bhutani, K. Modeling prediction error improves power of transcriptome-wide association studies
  17. Bishara, A. Read clouds enable accurate haplotype-resolved assembly of complex regions of the human genome
  18. Blake, L.E. Assessing the contribution of DNA methylation to regulatory evolution in primates
  19. Boettger, L.M. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
  20. Bonas Guarch, S. Identification of seven novel susceptibility loci for type 2 diabetes through genotype imputation based meta-analysis in 70,000 European individuals
  21. Bose, A. Genetic variation reveals the history of invasions in the Indian subcontinent and its influences on its demographics
  22. Bosio, M. eDiVA—Exome sequencing analysis pipeline for disease gene identification
  23. Breitwieser, F.P. Centrifuger—Interactive analysis of microbiomics data for pathogen identifcation
  24. Brownstein, C. Gene discovery in childhood-onset schizophrenia including a novel mutation in ATP1A3
  25. Burt, D. Annotation of the chicken and other avian genomes
  26. Busby, G. Evidence for adaptive gene-flow in recent African history
  27. Cagan, A. Genetic variants contributing to tame behavior in domesticated animals
  28. Campbell, C.R. Rates of evolution among sperm genes and implications for speciation in a small nocturnal primate, genus Microcebus
  29. Castellano, S. Genetic adaptation to levels of selenium in the diet in humans and other vertebrates
  30. Chaisson, M.J. Partitioning single-molecule sequencing from sequence paralogs de novo
  31. Chan, E.T. Integrated metadata-driven access of ENCODE, modENCODE, REMC, GGR, and modERN data through a common portal
  32. Chang, T. <u>D</u>ifferential microbial composition associated with asthma
  33. Charlier, C. A polymorphic ERV element that is mobilized in the germline at a rate that varies between individuals causes cholesterol deficiency by disrupting the bovine ApoB gene
  34. Chiang, C. SVTools—Scalable SV detection and interpretation for population-scale WGS studies
  35. Church, D.M. Fully phased assembly of HLA genes using linked-reads
  36. Ciccarelli, F. Inherited damaging mutations in immune-related genes favour the development of genetically heterogeneous synchronous colorectal cancer
  37. Clark, M.D. Unlocking bread wheat genome diversity with new sequencing and assembly approaches
  38. Collins, R.L. Uncovering the diversity of complex structural variation in 465 autism genomes with multiple whole-genome sequencing technologies
  39. Corioni, M. Advanced applications for clinical research exomes
  40. Corominas, M. Deciphering the regulatory transcriptional network controlling regeneration
  41. Cremona, M.A. Integration and fixation preferences of human and mouse endogenous retroviruses uncovered with functional data analysis
  42. Crouch, K.M. EuPathDB—Integrating eukaryotic pathogen genomics data with advanced search capabilities
  43. Crow, M. Exploiting single cell expression heterogeneity to characterize co-expression replicability
  44. Cui, H. Effect-specific analysis of pathogenic SNVs in human interactome—Insights into dynamic organization of the molecular network underlying complex disease
  45. Dapper, A.L. The effects of demographic history on the detection of recombination hotspots
  46. de Groot, T.E. Functional assays for in vitro characterization of multiple myeloma cancers
  47. de Hoon, M.J. Functional annotation of long non-coding RNAs in FANTOM6
  48. de Lange, K. Whole genome sequencing and imputation further resolves genetic risk for inflammatory bowel disease
  49. DeBoever, C.M. Genetic determinants of gene expression in a collection of 215 human induced pluripotent stem cells
  50. Delaneau, O. From regulatory variants to gene expression—Disentangling local regulatory networks
  51. Demeulemeester, J. Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing
  52. Di Sera, T.L. Gene.iobio—A visual, web based, real-time variant analysis tool
  53. DiGiovanna, J. Unleashing the cancer genomics cloud
  54. Dmitrieva, J. Enrichment of IBD fine mapping variants in Hi-C regions
  55. Dong, X. BRAINCODE—How does the human genome function in specific brain neurons?
  56. Dordel, J. Towards a high resolution understanding of the evolutionary forces shaping the population structure of common chimpanzees
  57. Dukler, N. Analyzing the interplay between enhancers and coding elements in the transcriptional response to celastrol
  58. Elansary, M. Identifying biological correlates of the underlying liability for common complex diseases—Towards novel biomarker systems for inflammatory bowel disease
  59. Engelhardt, B. Effects of trans-eQTLs across many human tissues
  60. Erlich, Y. DNA.Land—A community-wide platform to collect genomes and phenomes of millions of people
  61. Ettwiller, L.M. Spurious mutation due to DNA damage is pervasive and confounds accurate detection of low frequency mutations in human genome
  62. Fagny, M. A network-based approach to eQTL interpretation and SNP functional characterization
  63. Fairley, S. The International Genome Sample Resource (IGSR)—Supporting and building on the 1000 Genomes Project data
  64. Fakhro, K. Implementing a population-centric reference genome to facilitate precision medicine in Qatar and the Middle East
  65. Fang, H. Scikit-ribo—Accurate A-site prediction and robust modeling of translation control from Riboseq and RNAseq data
  66. Farrell, A.R. RUFUS—Accurate and sensitive reference free variant detection
  67. Farrell, C. NCBI’s vertebrate RefSeq project—Accessibility, curation and collaboration
  68. Fereydouni, B. Gel-free reduced representation bisulfite sequencing for single cell DNA methylation profiling
  69. Ferreira, P.G. Effects of post-mortem interval on gene expression across several tissues
  70. Flygare, S. The VAAST Variant Prioritizer (VVP)—Rapid, massively scalable whole genome variant prioritization tool and its use to prioritize and analyze the entire contents of dbSNP
  71. Foley, J.W. Streamlined and sensitive gene-expression profiling of degraded samples with Smart-3SEQ
  72. Gagneur, J. Genome-wide generalized additive models
  73. Galante, P. A genome-wide landscape of retrocopies in primate genomes
  74. Gao, Z. The population genetics of human disease—The case of recessive lethal mutations
  75. Genereux, D.p. Quantifying the epigenetic flexibility of individual loci across developmental time
  76. George, R.D. Rare-variant analysis of non-obstructive azoospermia reveals that Sertoli-cell-only syndrome and maturation arrest are genetically distinct
  77. Gerstein, M.B. An integrative framework for large-scale analysis of recurrent variants in noncoding annotations
  78. Glastonbury, C.A. Adipose tissue cell-type deconvolution to uncover BMI and cell-type specific regulatory effects
  79. Gloss, B. Dissecting developmental dynamics with high resolution temporal transcriptomics
  80. Husquin, L. Dissecting the impact of population variation in DNA methylation on transcriptional responses to immune activation
  81. Hussin, J. Platypus has recombination hotspots
  82. Ichikawa, K. De novo assembly of medaka fish genome using SMRT sequencing and construction of chromosome map using genetic markers
  83. Im, H. Linking genes to phenotypes using GTEx-trained PrediXcan associations in 40 human tissues and millions of individuals
  84. Jaffe, A.E. Interrogating the genomic mechanisms of schizophrenia genetic risk in the human brain
  85. Jaffe, D.B. Direct determination of genome sequences
  86. Jensen, J.M. Structural diversity, recombination and selection in the 4 Mb HLA region inferred from 100 de novo assembled haplotypes
  87. Jia, P. Linking roles of de novo mutations and common variants in schizophrenia
  88. Jiang, S. Single-nucleus transcriptome sequencing of differentiating human myoblasts reveals the extent of fate heterogeneity
  89. Jiao, Y. Improving maize genome resources using long-read sequencing technologies
  90. Jin, Y. TEpeaks—A tool for including repetitive sequences in ChIP-seq analysis
  91. Jun, G. Scalable multi-sample variant caller (MultiVAC) with fast and efficient local de novo assembly
  92. Jungreis, I. Evolutionary dynamics of abundant stop codon readthrough in Anopheles and Drosophila
  93. Kadri, N.K. Higher male than female recombination rate largely controlled by missense variants in RNF212, MLH3, HFM1, MSH5 and MSH4 in cattle
  94. Kasinathan, S. Reconstructing the evolutionary history of primate centromeres using single-molecule sequencing
  95. Keinan, A. Leveraging regulatory and genotype-phenotype data to discover and interpret the function of human regulatory DNA in health and disease
  96. Keinath, M.C. Characterization of a large vertebrate genome and sex chromosomes using shotgun and laser-capture chromosome sequencing
  97. Khramtsova, E.A. Assocplots—A python package for static and interactive visualization of multiple-group GWAS results
  98. Kim, D. A gene-environment interaction between copy number burden and exposure to tobacco smoke associated with total cholesterol
  99. Kim, D. HISAT-genotype—A practical approach for analyzing human genomes on a personal computer
  100. Kim, P. Landscape of kinase fusion genes based on kinase domain retention across 13 major cancer types
  101. Kitts, P. The NCBI Assembly Database—A resource for finding, browsing and downloading genome assembly data
  102. Klughammer, J. Heading for new shores—High-resolution analysis of DNA methylation in yet unsequenced species
  103. Knisbacher, B.A. DNA editing of retroelements by APOBECs—A source of genomic sequence diversity and accelerated evolution
  104. Ko, A. Context-specific eQTLs implicate diet-induced transcriptional control in obesity
  105. Konkel, M.K. Alu elements in baboons—Rapid expansion and evolutionary insights
  106. Krasileva, K. Uncovering hidden functional variation in polyploid wheat
  107. Krerowicz, S. Supported lipid bilayers to turn genomic science into materials science
  108. Kuderna, L. The origins of chimpanzee diversity
  109. Lal, A. Regulation of the E. coli RNA polymerase
  110. Lan, X. Coregulation of tandem duplicate genes slows evolution of subfunctionalization in mammals
  111. Lappalainen, T. The role of haplotype epistasis in human genetic variation and disease risk
  112. Laumer, C.E. Preservation of molecular identity during whole genome amplification to enable accurate single-cell mutation inference
  113. Layer, R.M. GIGGLE—Indexing and search all genomic annotation tracks
  114. Lea, A. A high-throughput, experimental method for quantifying the effects of enhancer methylation on gene expression
  115. Leshkowitz, D. Using synthetic mouse spike-in transcripts to evaluate RNA-Seq analysis tools
  116. Goodwin, S. Cancer genome assembly and structural variant detection with Bionano optical mapping and Pacific Bioscience long reads
  117. Gopalan, S. Ancient whole dog genomes show no evidence of population replacement in Neolithic Europe
  118. Gravel, S. When is selection effective?
  119. Graveley, B. Comprehensive characterization of RNA elements in the human genome
  120. Green, A.G. Sequence co-evolution predicts residue-level protein interactions
  121. Green, R.E. The human microbiome as surveyed using a rapid, culture-free whole genome assembly approach
  122. Gronau, I. New discoveries regarding introgression into Neandertals and Denisovans
  123. Gularte Merida, R. No evidence for transgenerational genetic effects in the trascriptome of isogenic derived mouse offspring
  124. Gulko, B. Combinations of genomic properties that explain selective pressure also predict functional elements
  125. Gutenkunst, R.N. The correlation across populations of mutation effects on fitness
  126. Haller, G.E. Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine
  127. Han, C. Evolution of abdominal pigmentation in Drosophila—A phenotype controlled by a gene regulatory network
  128. Hansen, K.D. Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data
  129. Hansen, K.D. The association between histone modification abundance and gene expression across individuals
  130. Haradhvala, N.J. Mutational strand asymmetries in cancer genomes reveal mechanisms of DNA damage and repair
  131. Harris, R. Insertion and deletion identification and characterization across a seven species baboon diversity panel
  132. Harris, R. Large-scale indel discovery in rhesus macaques (Macaca mulatta)
  133. Havrilla, J. Using the landscape of genetic variation in protein domains to improve functional consequence predictions
  134. He, X. Identification of CpG deserts in human and mouse genomes
  135. Hefferon, T. NCBI Structural Variation Hackathon—Developing open-source tools for comparing dbVar data to other datasets
  136. Hiller, M. Controlling for phylogenetic relatedness improves discovering the genomic basis underlying species’ phenotypic differences
  137. Ho, Y. Evaluation of molecular subtypes and classifications in breast and skin cancer
  138. Hormozdiari, F. Discovery of complex inversions and mutational properties underlying the origin of segmental duplications
  139. Hormozdiari, F. Joint fine mapping of GWAS and eQTL detects target gene and relevant tissue
  140. Huang, Y. A scalable framework for inferring fitness consequences of noncoding mutations in the human genome
  141. Huff, C.D. Rare variant case-control association studies with heterogeneous sequencing datasets
  142. Hughes, D. NRL mediates widespread changes in the epigenomic landscape of mouse photoreceptors
  143. Leslie, S.R. Tunable nanoconfinement for single-molecule manipulation, modification, and visualization—Toward next generation genomic analyses
  144. Li, J. Identifying risk alleles in ARHGEF17 for Intracranial Aneurysms with modest sample size
  145. Li, Z. Using BlocBuster to identify multi-SNP association patterns in Alzheimer’s disease cohorts
  146. Lin, M. The genetic architecture of short stature in the South African San
  147. Lincoln, S.E. Improving the reproducibility of clinical genetic tests—Challenges and solutions
  148. Liu, X. Functional annotation guided genotype-phenotype association analyses of whole genome sequence data
  149. Lodato, M. Somatic mutation in single human neurons tracks developmental and transcriptional history
  150. Lopez, M. Evaluating the efficiency of purifying selection in African populations with different modes of subsistence
  151. Lowe, C.B. Detecting copy number variation linked to phenotypic traits and repeated evolution
  152. Machado, H.E. The critical functions encoded by synonymous sites
  153. Maekawa, S. Regulation of the transcritome though RNA stability under hypoxia in human colorectal cancer cells
  154. Makova, K.D. De novo sequenced and assembled gorilla Y chromosome shows strong conservation with human but not chimpanzee
  155. Mariman, R. Effect of 184 risk variants for inflammatory bowel disease on the gut microbiome in healthy individuals
  156. Marks, D.S. Effects of mutation inferred from genomic sequences
  157. Marques-Bonet, T. Comparative study of the three-dimensional genomic structure in humans and primates
  158. Massaia, A. Birth, expansion and death of a human Y chromosome palindrome
  159. McClure, J. Darwin’s Dogs—Genetic mapping of complex behavioral traits in mixed-breed dogs
  160. McMahon, F.J. A population-specific reference panel empowers genetic studies of Anabaptists through improved imputation
  161. McMullan, M. Population genomics of the invasive ‘Ash Dieback’ pathogen Hymenoscyphus fraxineus
  162. Meyer, H.V. Understanding cardiac structure and function in humans using 4D imaging genetics
  163. Meyn, S. Parental choices and initial results from a comprehensive search for predictive secondary genomic variants in children undergoing whole genome sequencing
  164. Miao, Z. ASElux—An ultra fast and accurate allelic reads aligner
  165. Miller, C. IOBIO Dev Kit—Resources for making genomic, real-time web applications and services
  166. Mishmar, D. The genomic landscape of evolutionary convergence in amniotes
  167. Mitchell, A.A. Family and population-based genotype imputation in Finland
  168. Mohammadi, P. Estimating tolerated genetic variation in gene expression from allelic expression data
  169. Molik, D. EDGY—Export of data from Galaxy to Yabi, automated workflow transfer to command line tools
  170. Mondal, M. The genomic analysis of the Andamanese gives a new insight on the spread of humans in Asia
  171. Moody, J. Human variation in microRNA biogenesis and disease
  172. Moroz, L.L. Single-cell and real-time epitranscriptomics reveals novel mechanisms of cell individuality and memory
  173. Morris, D. Cognitive analysis of GWAS schizophrenia risk genes that function as epigenetic regulators of gene expression
  174. Mostafavi, S. A multikernel machine approach for multi-omic analysis in context of Alzheimer’s disease
  175. Motai, Y. Towards measuring nuclear domains from Hi-C data
  176. Mudge, J. The discovery of over 100 novel human protein-coding genes based on conservation, next generation transcriptomics and mass spectrometry
  177. Munch, K. Selective sweeps across twenty millions years of human evolution
  178. Musharoff, S. Modeling ancestry-dependent phenotypic variance reduces bias and increases power in genetic association studies
  179. Nattestad, M. Complex rearrangements and oncogene amplifications revealed by single molecule DNA sequencing of a highly rearranged cancer cell line
  180. Navarro, F.C. Pervasive transcription deconvolution reveals transposable elements activity during the development of the human brain
  181. Nellore, A. Systematic analysis of large human RNA-seq datasets
  182. Nelson, D. Identifying the ancestral origin of rare alleles
  183. Neubern de Oliveira, P.N. Differentially expressed miRNAs in liver tissue related to feed efficiency in Nelore cattle
  184. Nolte, A.W. Genomic signatures of hybrid speciation in invasive sculpins (Cottus)
  185. Noutsos, C. Novel small RNAs identified in developing maize seeds
  186. Nurtdinov, R. Comparative transcriptomics of immune cell reprogramming in human and mouse species
  187. Oak, N. Defining the microRNA mutational landscape in 1000 Genomes and pediatric acute lymphocytic leukemia datasets
  188. O’Donnell-Luria, A. Interpreting variant pathogenicity—Lessons from over 60,000 human exomes
  189. Oliva, M. Identification of sex-biased expression and expression quantitative trait loci (eQTLs) in innate and adaptive immunity
  190. Ongen, H. Identifying the tissue of action for GWAS variants and assessing tissue specificity of eQTLs in GTEx
  191. O’Rawe, J.A. Properties of false-negative variant calls in human exome sequencing data
  192. Panousis, N. Genetics of gene expression regulation in a case-control study for acute myocardial infarction in a Pakistani population
  193. Park, J. Effect of BRAF and RAS mutations on alternative polyadenylation in papillary thyroid carcinoma
  194. Park, Y. Computational discovery of epigenetic mediators in Alzheimer’s disease from imputed methyome-wide association statistics
  195. Pedersen, B.S. Vcfanno—Fast, flexible annotation of genomic variants
  196. Pfeifer, S.P. Genomic and functional basis of adaptive change—The selective history of camouflaged deer mouse populations
  197. Phan, L. dbSNP in the era of next-generation sequencing
  198. Phillippy, A. Canu—A PacBio and Nanopore assembler for genomes large and small
  199. Pinello, L. Chromatin state variability—A guide to uncover functional genomic regions and interactions
  200. Pipes, L. Understanding how alternative splicing relates to primate genome evolution—A cross-primate analysis of changes in isoforms and their abundance
  201. Porubsky, D. Genome-wide haplotyping using single-cell sequencing
  202. Prabhakar, S. Histone acetylome-wide association study of autism spectrum disorder
  203. Quitadamo, . eQTL analysis of lung adenocarcinoma expression subtypes
  204. Rafati, N. SMRT sequencing reveals complex structure of the sex determination locus in Atlantic herring
  205. Raghupathy, N. EMASE—Accurate estimation of allele-specific expression using an EM algorithm
  206. Ramakrishnan, S. The DOE Systems Biology Knowledgebase (KBase)—Fast and flexible RNA-seq analysis of plants and microbes
  207. Richards, A.L. In vitro gene-by-environment interactions are relevant for complex traits
  208. Riethman, H.C. High throughput single-molecule mapping links subtelomeric variants, long-range haplotypes, and telomere length profiles with specific human telomeres
  209. Rodriguez, J. GWAS replicability across time and space
  210. Rogers, J. Papio baboons—A present-day model for ancient hominin genetic introgression
  211. Rosenfeld, J.A. Development of a high-throughput clinical tumor sequencing workflow
  212. Rosewick, N. HTLV-1/BLV antisense RNA-dependent cis-perturbation of cancer drivers in leukemic and pre-leukemic clones
  213. Ruan, Y. 3D genome architecture frames chromatin topology for transcription regulation
  214. Sadler, B.E. Positive selection on loci associated with drug and alcohol dependence
  215. Salerno, W. Rapid anonymized lookups of de novo structural variants for whole-genome trios
  216. Sandelin, A. The promoter- and enhancer landscape of inflammatory bowel disease
  217. Sanders, A. Visualizing structural variation at the single cell level to explore human genome heterogeneity
  218. Sanjak, J.S. Frequency, variance and power—How genetic model and demography impact association studies
  219. Saraceno, C. Understanding the sea lamprey transcriptome during programmed genome rearrangement
  220. Schatz, M.C. GenomeScope—Fast genome analysis from unassembled short reads
  221. Scherer, S.E. Targeted prospective sequencing to identify and incorporate clinically actionable pharmacogenomic variants in electronic health records as a model for precision individualized health care
  222. Schierup, M.H. A detailed view of complex genomic variation in humans from high-quality de novo genome assemblies of 50 Danish parent-offspring trios
  223. Schneider, V.A. Off-chromosome—Understanding and accessing variation, updates and uncertainties in the human reference genome
  224. Schones, D.E. Regulatory variation driven by transposable elements contributes to metabolic disease
  225. Scott, A.J. The impact of genome structural variation on gene expression in humans
  226. Scott, E.C. A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer
  227. Sedlazeck, F.J. Teaser—Comprehensive read mapper benchmarking in 20 minutes for genomes, transcriptomes, methylomes and metagenomes
  228. Sen, A. Role of alternative splicing in recovery from traumatic brain injury
  229. Sengupta, D. Fast, scalable and accurate differential expression analysis of single cells—Application to mouse brain and circulating tumor cells
  230. Sharon, E. Genetic variation in MHC proteins is associated with T-cell receptor expression biases
  231. Shchur, V. Tree consistent PBWT and their application to reconstructing ancestral recombination graphs and population structure inference
  232. Shekar, N. A reference-agnostic and rapidly queryable NGS read data format allows for flexible analysis at scale
  233. Shenoy, S. Assessment of the human eQTLscape by standardized re-analysis of over 50 eQTL datasets
  234. Shooshtari, P. Integrating genetics and epigenetics data to prioritize non-coding risk loci and the genes perturbed in autoimmune diseases
  235. Skov, L. Detecting introgressed archaic haplotypes in Oceanic population genome sequences
  236. Smith, J.J. A deep evolutionary perspective on vertebrate genome biology
  237. Song, L. Rascaf—Genome assembly scaffolding with RNA-seq data
  238. Spies, N. Read clouds reveal evolution of structural variation in cancer
  239. Steyer, B.G. Arrayed synthesis of custom single guide RNA libraries for CRISPR-Cas9 gene editing
  240. Strattan, J. The ENCODE analysis pipelines—Repeatable and shareable analysis tools for ChIP-seq, RNA-seq, DNase-seq, and whole-genome bisulfite experiments
  241. Su-Feher, L. Neurodevelopmental gene expression profiling in heterozygous Chd8 mice reveals pathways driving macrocephaly and developmental disorders
  242. Sugden, L.A. A dependence-aware composite framework for identifying and localizing hard selective sweeps, with application to a Southern African population
  243. Suzuki, Y. A human diploid methylome using SMRT read kinetics data
  244. Suzuki, Y. Meta-methylome analysis with SMRT sequencing revealed a diversity of DNA methylation motifs in uncultured human gut microbiomes
  245. Suzuki, Y. Nanopore sequencing for genotyping pathogens of tropical diseases
  246. Takeda, H. Ectopic expression of retrotransposon-derived PEG11/RTL1 contributes to the callipyge muscular hypertrophy
  247. Taylor, M.S. The landscape of replication associated mutations in the human and mouse germlines
  248. Telis, N. Hints of recent polygenic adaptation in Northern Europeans
  249. Thakur, J.K. Comparative ChIP-seq uncovers the molecular architecture of human centromeres
  250. Thornton, K.R. Polygenic adaptation to optimum shifts
  251. Timoshevskiy, V.A. Epigenetic, cytogenetic and cellular aspects of programmed DNA elimination in the vertebrate, sea lamprey (Petromyzon marinus)
  252. Tizioto, P.C. Unraveling gene expression changes in Longissimus muscle of Nelore cattle differing for feed efficiency
  253. Tuggle, C.K. The porcine blood transcriptomic response to lipopolysaccharide (LPS) is highly similar to that of human
  254. Uddin, M. De novo germline and nodular heterotopia-associated postzygotic mutations of STXBP1 in an epilepsy patient successfully treated with resective surgery
  255. Ulirsch, J.C. Systematic functional dissection of common genetic variation affecting transcriptional regulation and human disease
  256. Ung, M. Integrative analysis of essential gene patterns contributing to cancer drug response
  257. Välimäki, N. Sequence mining reveals informative and enriched elements in (meta-)genomic data
  258. van de Geijn, B.M. Leveraging heritability of H3K27ac histone modifications to create better functional annotations
  259. Varn, F. Systematic pan-cancer analysis of immune infiltration
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