Robert E. Handsaker
Molecular Biology · 2008–2019
A researcher in the Science corpus: 19 papers; trusts 1 researcher and is trusted by 10 researchers here, as inferred from the citation graph.
Subfields
- Molecular Biology — 289 citations into it; #5,558 of 17,773 by trust here, #206 by citations
- Ecology — 6 citations into it
Whom Robert E. Handsaker trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Who trusts Robert E. Handsaker overall
- Ben Langmead
- Heng Li
- Todd J. Treangen
- Haja N. Kadarmideen
- Julian Catchen
- M. Lozano
- Michael J. Axtell
- Pasi Rastas
- Daniel R. Zerbino
- Shifu Chen
Papers from Robert E. Handsaker's perspective
Ordered by how strongly the researchers Robert E. Handsaker trusts endorse each paper. Same corpus, a different order for every researcher.
- ClinVar: public archive of interpretations of clinically relevant variants
- Exome sequencing as a tool for Mendelian disease gene discovery
- The human genome browser at UCSC.
- The Human Gene Mutation Database: 2008 update
- A method and server for predicting damaging missense mutations
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- EGASP: the human ENCODE Genome Annotation Assessment Project (Genome Biology)
- A gain-of-function mutation of JAK2 in myeloproliferative disorders. (New England Journal of Medicine)
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- A global reference for human genetic variation
Their papers
- The Sequence Alignment/Map format and SAMtools (2009) — 56,954 citations
- A global reference for human genetic variation (2015) — 16,925 citations
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2017) — 796 citations
- A systematic survey of loss-of-function variants in human protein-coding genes (2012) — 1,227 citations
- SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap (2008) — 1,464 citations
- Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans (2009) — 1,454 citations
- Genetic effects on gene expression across human tissues (2017) — 3,717 citations
- The GTEx Consortium atlas of genetic regulatory effects across human tissues (2019) — 4,770 citations
- Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics (2016) — 1,036 citations
- Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. (2012) — 577 citations
- Insights about clonal hematopoiesis from 8,342 mosaic chromosomal alterations (2018) — 342 citations
- Ultra-rare disruptive and damaging mutations influence educational attainment in the general population (2016) — 97 citations
- Schizophrenia risk from complex variation of complement component 4 (2016) — 2,241 citations
- An integrated map of structural variation in 2,504 human genomes (2015) — 2,247 citations
- Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence (2014) — 3,098 citations
- An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) — 308 citations
- An integrated map of genetic variation from 1,092 human genomes (2012) — 8,008 citations
- Mapping copy number variation by population scale genome sequencing (2011) — 1,130 citations
- Integrated detection and population-genetic analysis of SNPs and copy number variation (2008) — 996 citations