RICHARD GIBBS to Software
This is a "connection" page, showing publications RICHARD GIBBS has written about Software.
Connection Strength
2.306
-
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 09; 21(9):2135-2144.
Score: 0.414
-
Comparison of variant callers using 60?532 multi-ancestry whole genome sequences. Brief Bioinform. 2026 Mar 01; 27(2).
Score: 0.168
-
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 12 31; 18(1):16.
Score: 0.166
-
The Atlas genome assembly system. Genome Res. 2004 Apr; 14(4):721-32.
Score: 0.147
-
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. Gigascience. 2022 12 28; 12.
Score: 0.134
-
muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 08 04; 37(14):2055?2057.
Score: 0.119
-
Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 12 21; 9(12).
Score: 0.117
-
Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 2019 09 01; 8(9).
Score: 0.107
-
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017 Mar 03; 18(1):147.
Score: 0.090
-
DNAism: exploring genomic datasets on the web with Horizon Charts. BMC Bioinformatics. 2016 Jan 27; 17:49.
Score: 0.083
-
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.079
-
Working on the assembly line. Trends Biochem Sci. 1995 Apr; 20(4):162-3.
Score: 0.079
-
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics. 2014 Jan 29; 15:30.
Score: 0.072
-
CGAP-align: a high performance DNA short read alignment tool. PLoS One. 2013; 8(4):e61033.
Score: 0.069
-
Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology. PLoS One. 2012; 7(11):e47768.
Score: 0.067
-
An integrative variant analysis suite for whole exome next-generation sequencing data. BMC Bioinformatics. 2012 Jan 12; 13:8.
Score: 0.063
-
K-mer analysis of long-read alignment pileups for structural variant genotyping. Nat Commun. 2025 Apr 04; 16(1):3218.
Score: 0.039
-
Dynamic building of a BAC clone tiling path for the Rat Genome Sequencing Project. Genome Res. 2004 Apr; 14(4):679-84.
Score: 0.037
-
Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846.
Score: 0.030
-
Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 10 27; 49(11):1560-1563.
Score: 0.023
-
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 07; 25(7):1270-1276.
Score: 0.023
-
Large-scale concatenation cDNA sequencing. Genome Res. 1997 Apr; 7(4):353-8.
Score: 0.023
-
Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997 Mar; 7(3):268-80.
Score: 0.022
-
The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 Oct; 36(10):915-21.
Score: 0.020
-
WGSA: an annotation pipeline for human genome sequencing studies. J Med Genet. 2016 Feb; 53(2):111-2.
Score: 0.020
-
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015 Apr 15; 24(8):2125-37.
Score: 0.019
-
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. PLoS Genet. 2013 Apr; 9(4):e1003443.
Score: 0.017
-
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol. 2011 May; 29(5):415-20.
Score: 0.015
-
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 Mar; 86(6):1919-23.
Score: 0.013
-
The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.012
-
SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol. 2005 Oct; 1(5):e53.
Score: 0.010
-
Identification of rat genes by TWINSCAN gene prediction, RT-PCR, and direct sequencing. Genome Res. 2004 Apr; 14(4):665-71.
Score: 0.009