The decrease in sequencing cost and increased sophistication of assembly algorithms for short-read platforms has resulted in a sharp increase in the number of species with genome assemblies. However, these assemblies are highly fragmented, with many gaps, ambiguities, and errors, impeding downstream applications. We demonstrate current state of the art for de novo assembly using the domestic goat (Capra hircus), based on long reads for contig formation, short reads for consensus validation, and scaffolding by optical and chromatin interaction mapping. These combined technologies produced the most continuous de novo mammalian assembly to date, with chromosome-length scaffolds and only 649 gaps. Our assembly represents a ~400-fold improvement in continuity due to properly assembled gaps compared to the previously published C. hircus assembly, and better resolves repetitive structures longer than 1 kb, representing the largest repeat family and immune gene complex ever produced for an individual of a ruminant species.

Five new recessive defects were discovered in Holsteins, Jerseys, and Brown Swiss by examining haplotypes that had a high population frequency but were never homozygous. The method required genotypes only from apparently normal individuals and not from affected embryos. Genotypes from the BovineSNP50 BeadChip (Illumina, San Diego, CA) were examined for 58,453 Holsteins, 5,288 Jerseys, and 1,991 Brown Swiss with genotypes in the North American database. Haplotypes with a length of ≤ 75 markers were obtained. Eleven candidate haplotypes were identified, with the earliest carrier born before 1980; 7 to 90 homozygous haplotypes were expected, but none were observed in the genomic data. Expected numbers were calculated using either the actual mating pattern or assuming random mating. Probability of observing no homozygotes ranged from 0.0002 for 7 to 10⁻⁴⁵ for 90 expected homozygotes. Phenotypic effects were confirmed for 5 of the 11 candidate haplotypes using 14,911,387 Holstein, 830,391 Jersey, and 68,443 Brown Swiss records for conception rate. Estimated effect for interaction of carrier service sire with carrier maternal grandsire ranged from -3.0 to -3.7 percentage points, which was slightly smaller than the -3.9 to -4.6 percentage points expected for lethal recessives but slightly larger than estimated effects for previously known lethal alleles of -2.5 percentage points for brachyspina and -2.9 percentage points for complex vertebral malformation. Conception rate was coded as a success only if the gestation went to term or the cow was confirmed to be pregnant. Estimated effect of carrier interaction for stillbirth rate based on 10,876,597 Holstein and 25,456 Jersey records was small. Thus, lethal effects may include conception, gestation, and stillbirth losses. Carrier frequency has been >20% for many years for the confirmed defect in Jerseys and is currently 16% for the defect in Brown Swiss. The 3 defects discovered in Holsteins have carrier frequencies of 2.7 to 6.4% in the current population. For previously known defects, map locations and lack of homozygotes were consistent with the literature and lethal recessive inheritance, but numbers of expected homozygotes for some were small because of low frequency. Very large genotypic and phenotypic data sets allow efficient detection of smaller and less frequent effects. Haplotype tests can help breeders avoid carrier matings for such defects and reduce future frequencies.

Use of sexed semen for artificial insemination of US Holstein heifers (1.3 million breedings) and cows (10.8 million breedings) in Dairy Herd Improvement herds was characterized by breeding year, parity, service number, region, herd size, and herd milk yield. Sexed semen was used for 1.4, 9.5, and 17.8% of all reported breedings for 2006, 2007, and 2008, respectively, for heifers, and for 0.1, 0.2, and 0.4%, respectively, for cows. For 2008 sexed semen breedings, 80.5 and 68.6% of use was for first services of heifers and cows, respectively. For cows, 63.1% of 2008 sexed semen use was for first parity. Mean sexed semen use within herd was the greatest for heifers in the Southwest (36.2%) and for cows in the Mideast (1.3%). Mean sexed semen use increased for heifers but changed little for cows as either herd size or herd mean milk yield increased. Availability of sexed semen was examined for Holstein bulls in active AI service; of 700 bulls born after 1993, 37% had sexed semen marketed by mid August 2009. Active AI bulls with marketed sexed semen were superior to average active AI bulls for evaluations of yield traits, productive life, somatic cell score, daughter pregnancy rate, service-sire calving ease, service-sire stillbirth, final score, sire conception rate, and lifetime net merit. The effect of sexed semen use on conception rate, calf sex, dystocia, and stillbirth also was examined for heifers and cows. Mean conception rate for heifers was 56% for conventional and 39% for sexed semen; corresponding conception rates for cows were 30 and 25%. For single births from sexed semen breedings, around 90% were female. Dystocia and stillbirth were more frequent for heifers (6.0 and 10.4%, respectively, for conventional semen; 4.3 and 11.3%, respectively, for sexed semen) than for cows (2.5 and 3.6%, respectively, for conventional semen; 0.9 and 2.7%, respectively, for sexed semen). Difficult births declined by 28% for heifers and 64% for cows with sexed semen use. Stillbirths were more prevalent for twin births except for sexed semen heifer breedings. Stillbirths of single male calves of heifers were more frequent for breedings with sexed semen (15.6%) than conventional semen (10.8%); a comparable difference was not observed for cows, for which stillbirth frequency of single male calves even decreased (2.6 vs. 3.6%). Overall stillbirth frequency was reduced by sexed semen use for cows but not for heifers.