Author details

Full Name

Robert E Handsaker

Affiliation

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37527660	Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.		2023
37333244	Hidden protein-altering variants influence diverse human phenotypes.		2023
35176222	Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.	Cell Stem Cell	2022
35835769	Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.	Scientific Reports	2022
34554798	Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.	Science	2021
33501449	Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.		2021
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
29769526	A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.	Nat Commun	2018
29973585	Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.	Nat Commun	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
30140049	Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.	Nat Commun	2018
29995854	Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.	Nature	2018
29700473	An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.	Nat Genet	2018
29549319	Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.	Nat Neurosci	2018
29590102	Common Î±-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.	PLoS Genet	2018
29184211	Whole genome sequencing in psychiatric disorders: the WGSPD consortium.	Nat Neurosci	2017
28445466	Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.	Nature	2017
28522612	GenomeVIP: a cloud platform for genomic variant discovery and interpretation.	Genome Res	2017
27694993	Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.	Nat Neurosci	2016
27111036	Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.	Nat Genet	2016
26901066	Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.	Nat Genet	2016
26814963	Schizophrenia risk from complex variation of complement component 4.	Nature	2016
26098870	Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.	Nat Genet	2015
25673413	Genetic studies of body mass index yield new insights for obesity biology.	Nature	2015
25883321	Characteristics of de novo structural changes in the human genome.	Genome Res	2015
25621458	Large multiallelic copy number variations in humans.	Nature Genetics	2015
26432246	An integrated map of structural variation in 2,504 human genomes.	Nature	2015
24704492	Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.	Cell Stem Cell	2014
25416942	Genetic variation in human DNA replication timing.	Cell	2014
25426838	Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.	N Engl J Med	2014
24980144	Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.	Genome Biol	2014
24667040	An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.	Genome Biol	2014
23583979	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Nat Genet	2013
23932108	Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes.	Am J Hum Genet	2013
23446634	Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.	Hum Mol Genet	2013
23435088	Using population admixture to help complete maps of the human genome.	Nat Genet	2013
23396133	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.	Nat Genet	2013
23128226	An integrated map of genetic variation from 1,092 human genomes.	Nature	2012
22751096	Structural haplotypes and recent evolution of the human 17q21.31 region.	Nat Genet	2012
22344438	A systematic survey of loss-of-function variants in human protein-coding genes.	Science	2012
22688191	Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.	Mol Psychiatry	2012
23040492	Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.	Am J Hum Genet	2012
21653522	The variant call format and VCFtools.	Bioinformatics	2011
21293372	Mapping copy number variation by population-scale genome sequencing.	Nature	2011
21317889	Discovery and genotyping of genome structural polymorphism by sequencing on a population scale.	Nature Genetics	2011
19505943	The Sequence Alignment/Map format and SAMtools.	Bioinformatics	2009
19741609	Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans.	Nature	2009
18776908	Integrated detection and population-genetic analysis of SNPs and copy number variation.	Nat Genet	2008
18974171	SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap.	Bioinformatics	2008
17463246	Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.	Science	2007