Loss of function mutations in essential genes cause embryonic lethality in pigs

Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome

(2018) Martijn F. L. Derks et al.   PLoS Genetics

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease

(2017) Lavinia C. Dumitrache et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Genetic control of complex traits, with a focus on reproduction in pigs

(2017) Louisa J. Zak et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Effective population sizes in cattle, sheep, horses, pigs and goats estimated from census and herdbook data

(2016) S. J. G. Hall   Animal

NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock

(2016) Carole Charlier et al.   GENOME RESEARCH

Accuracy of genomic prediction of purebreds for cross bred performance in pigs

(2016) A.M. Hidalgo et al.   JOURNAL OF ANIMAL BREEDING AND GENETICS

Evidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern

(2016) Amanda E. Trask et al.   JOURNAL OF ANIMAL ECOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse

(2016) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB

(2016) Ekkehard Schütz et al.   PLoS One

Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability

(2015) M. Shimada et al.   EMBO JOURNAL

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

(2015) Ziyue Gao et al.   GENETICS

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

(2015) Fakhri Kallabi et al.   NEUROSCIENCE RESEARCH

Developmental progress and current status of the Animal QTLdb

(2015) Zhi-Liang Hu et al.   NUCLEIC ACIDS RESEARCH

Accuracy of Predicted Genomic Breeding Values in Purebred and Crossbred Pigs

(2015) André M. Hidalgo et al.   G3-Genes Genomes Genetics

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

(2015) Ziyue Gao et al.   GENETICS

A Deep Catalog of Autosomal Single Nucleotide Variation in the Pig

(2015) Erica Bianco et al.   PLoS One

A 660-Kb Deletion with Antagonistic Effects on Fertility and Milk Production Segregates at High Frequency in Nordic Red Cattle: Additional Evidence for the Common Occurrence of Balancing Selection in Livestock

(2014) Naveen Kumar Kadri et al.   PLoS Genetics

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

(2013) Sébastien Fritz et al.   PLoS One

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Harmful recessive effects on fertility detected by absence of homozygous haplotypes

(2011) P.M. VanRaden et al.   JOURNAL OF DAIRY SCIENCE

ggplot2: Elegant Graphics for Data Analysis

(2011) Cedric Ginestet   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES A-STATISTICS IN SOCIETY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

JBrowse: A next-generation genome browser

(2009) M. E. Skinner et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The genetics of inbreeding depression

(2009) Deborah Charlesworth et al.   NATURE REVIEWS GENETICS

Early pre-implantation lethality in mice carrying truncated mutation in the RNA polymerase 1-2 gene

(2007) Hui Chen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS